All individuals with variants in gene PAX3

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

214 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00050588	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, affected sibling(s)	M	-	United Kingdom (Great Britain)	-	-	-	Decipher	-	?	craniosynostosis, global developmental delay, abnormality of the palpebral fissures, abnormality of the palmar creases	1	2	Johan den Dunnen
00100622	-	-	-	-	-	Germany	-	-	-	-	-	WS1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00269431	-	-	-	-	-	-	-	-	-	-	-	WS1	-	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00282193	-	PubMed: DeStefano 1998	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282195	-	PubMed: Carey 1998, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282196	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282201	-	PubMed: Baldwin 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282202	-	PubMed: Pingault 2010, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282207	-	PubMed: Hol 1998, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282208	-	PubMed: Tassabehji 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282209	-	PubMed: DeStefano 1998	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282212	-	PubMed: Lalwani 1995, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282213	-	PubMed: Read 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282217	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282218	-	PubMed: Lalwani 1995, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282220	-	PubMed: Kujat 2007, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282221	-	PubMed: Wollnik 2003, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282223	-	PubMed: Markova 2003, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282224	-	PubMed: Tassabehji 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282225	-	PubMed: Tassabehji 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282226	-	-	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282230	-	PubMed: Baldwin 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282233	-	PubMed: Baldwin 1994, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282235	-	PubMed: Pandya 1996, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282237	-	PubMed: Baldwin 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282239	-	PubMed: Baldwin 1995, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282242	-	PubMed: Read 1997, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282245	-	PubMed: Wang 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282246	-	PubMed: Tassabehji 1994, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282247	-	PubMed: Butt 1994, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282248	-	PubMed: Tassabehji 1994, PubMed: Xiong 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282255	-	PubMed: Tassabehji 1994, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282256	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282260	-	PubMed: Morell 1992	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282264	-	PubMed: Milunsky 1993, PubMed: Zlotogora 1995, PubMed: Alford 2014, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282265	-	PubMed: Tassabehji 1995, PubMed: Alford 2014, PubMed: Hoth 1993, PubMed: Milunsky 1993, PubMed: Reynolds 1995, PubMed: Tassabehji 1993, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282267	-	PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Tang 2015	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282268	-	PubMed: Alford 2014, PubMed: Milunsky 1993, PubMed: Chen 2010, PubMed: Zhang 2012	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282276	-	PubMed: Pierpont 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282278	-	-	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282282	-	PubMed: Carezani-Gavin 1992, PubMed: Hoth 1993, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: Fortin 1997, PubMed: Armoni 2002	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282283	-	PubMed: Ptok 2006	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282284	-	PubMed: Baldwin 1992, PubMed: Milunsky 1993, PubMed: Alford 2014, PubMed: da-Silva 1991, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282288	-	-	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282289	-	PubMed: Sommer 1983, PubMed: Asher JH Jr 1996	-	-	-	-	-	-	-	-	-	deafness	hand syndrome	1	1	Global Variome, with Curator vacancy
00282290	-	PubMed: Sheffer 1992, PubMed: Goodman 1982, PubMed: Hoth 1993, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282291	-	PubMed: Tassabehji 1994, PubMed: Fortin 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00282297	-	PubMed: Ptok 2006	-	-	-	-	-	-	-	-	-	WS	-	1	1	Global Variome, with Curator vacancy
00292615	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	105	Mohammed Faruq
00304791	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	2	Mohammed Faruq
00315611	FamPatII1	PubMed: Yang 2013	2-generation family, 3 affected	M	-	China	-	-	-	-	-	WS	More extended depigmentation than his parents with a single mutation	1	3	Veronique Pingault
00315624	-	PubMed: Attaie 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315625	-	PubMed: Soejima 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315626	-	PubMed: Asher (990, PubMed: Morell 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315627	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315628	-	PubMed: Tassabehji 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315629	-	PubMed: Sheffer 1992, PubMed: Hoth 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315630	-	PubMed: Asher 1996	-	-	-	-	-	-	-	-	-	CDHS	-	1	1	Veronique Pingault
00315631	-	PubMed: Pandya 1996	-	-	-	United Kingdom (Great Britain);United States	Ireland; native American	-	-	-	-	WS	-	1	1	Veronique Pingault
00315632	-	PubMed: Wollnik 2003	-	-	-	Turkey	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315633	-	PubMed: [Da-Silva (1991)]	-	-	-	Brazil	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315634	-	PubMed: Carezani-Gavin 1992, PubMed: Hoth 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315635	-	PubMed: Pingault 2010	-	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315636	-	PubMed: Pandya 1996	-	-	-	France	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315637	-	PubMed: Soejima 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315638	-	PubMed: Baldwin 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315639	-	PubMed: Wollnik 2003	-	-	-	Turkey	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315640	-	PubMed: Hol 1998	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315641	-	PubMed: Foy 1990, PubMed: Tassabehji 1992	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315642	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315643	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315644	-	PubMed: Sotirova 2000	-	-	-	Iran	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315645	-	PubMed: Pandya 1996	-	-	-	Italy	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315646	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315647	-	PubMed: Pingault 2010	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315648	-	PubMed: Tassabehji 1993	Initialy reported as WS2	-	-	-	-	-	-	-	-	WS	Initialy reported as WS2	1	1	Veronique Pingault
00315649	-	PubMed: Zlotogora 1995	-	-	yes	Palestine	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315650	-	PubMed: Zlotogora 1995	-	M	yes	Palestine	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315651	-	PubMed: Baldwin 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315652	-	PubMed: Morell 1992	-	-	-	Indonesia	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315653	-	PubMed: Wollnik 2003	-	-	yes	Turkey	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315654	-	PubMed: Wollnik 2003	-	F	yes	Turkey	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315655	-	PubMed: Foy 1990, PubMed: Tassabehji 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315656	-	PubMed: Wildhardt 1996	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315657	-	Bottani 1999 Am J Hum Genet 65:A143, Klein 1947	-	F	-	-	-	-	-	-	-	WS	-	2	1	Veronique Pingault
00315658	-	PubMed: Tassabehji 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315659	-	PubMed: Baldwin 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315660	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315661	-	PubMed: Tassabehji 1995	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315662	-	PubMed: Tekin 2001	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315663	-	PubMed: Read 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315664	-	PubMed: Pingault 2010	-	M	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315665	-	PubMed: Morell 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315666	-	PubMed: Butt 1994	-	-	-	South Africa	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315667	-	PubMed: Tassabehji 1994	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315668	-	PubMed: Foy 1990, PubMed: Tassabehji 1993	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315669	-	PubMed: Read 1997	-	-	-	-	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315670	-	PubMed: Tassabehji 1995	-	M	-	-	Asian	-	-	-	-	WS	-	1	1	Veronique Pingault
00315671	-	PubMed: Wollnik 2003	-	-	-	Turkey	-	-	-	-	-	WS	-	1	1	Veronique Pingault
00315672	-	PubMed: Baldwin 1995	-	-	-	-	-	-	-	-	-	WS	spina bifida in 2 patients	1	1	Veronique Pingault

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Global Variome shared LOVD

PAX3 (paired box 3)