Disease #00143 (BSS (Bernard-Soulier syndrome), OMIM:231200)

Official abbreviation	BSS
Name	Bernard-Soulier syndrome
OMIM ID	231200
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	226
Phenotype entries for this disease	16
Associated with 3 genes	GP1BA, GP1BB, GP9
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-06-12 11:01:30 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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.

226 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	Genes screened	Variants in genes	Variants	Panel size	Owner
00002432	-	-	-	-	-	-	-	-	-	-	-	BSS	-	-	-	-	1	Anna Savoia
00016596	-	PubMed: Savoia 2011,PubMed: Savoia 2014	-	-	-	-	South America	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016597	-	PubMed: Simsek 1994,PubMed: Savoia 2014	-	-	-	Spain	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016598	-	PubMed: Rand 2010,PubMed: Savoia 2014	-	-	-	Portugal	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016599	-	PubMed: Savoia 2014	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016600	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016601	-	PubMed: Savoia 2014	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	2	Anna Savoia
00016615	-	PubMed: Savoia 2014	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016616	-	PubMed: Savoia 2014	-	-	-	Tunisia	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	2	Anna Savoia
00016618	-	PubMed: Savoia 2014	-	-	-	Canada	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016619	-	PubMed: Savoia 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016620	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016621	-	PubMed: Savoia 2014	-	-	-	Morocco	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016622	-	PubMed: Savoia 2014	-	-	-	Turkey	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016623	-	PubMed: Savoia 2014	-	-	-	Turkey	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016624	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016625	-	PubMed: Savoia 2014	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016626	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	2	Anna Savoia
00016627	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016628	-	PubMed: Savoia 2014	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016629	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016630	-	PubMed: Savoia 2014	-	-	-	Brazil;Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016631	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016632	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016633	-	PubMed: Savoia 2014	-	-	-	Germany	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	2	Anna Savoia
00016635	-	PubMed: Glembotsky 2012,PubMed: Savoia 2014	-	-	-	Bolivia	Indigenous	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016636	-	PubMed: Afrasiabi 2007,PubMed: Savoia 2014	-	-	-	Iran	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016637	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016638	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016639	-	PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016642	-	PubMed: Gonzalez-Manchon 2003	-	-	-	-	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	2	Anna Savoia
00016643	-	PubMed: Savoia 2014	-	-	-	Lebanon	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	2	Anna Savoia
00016644	-	PubMed: Savoia 2014	-	-	-	France	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016645	-	PubMed: Savoia 2014	-	-	-	Spain	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016646	-	PubMed: Savoia 2014	-	-	-	Mauritania	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016647	-	PubMed: Savoia 2014	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	3	Anna Savoia
00016648	-	PubMed: Savoia 2014	-	-	-	France	-	-	-	-	-	BSS	-	GP1BB	GP1BB	2	1	Anna Savoia
00016649	-	PubMed: Vettore 2008,PubMed: Savoia 2014	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016650	-	PubMed: Sumitha 2011,PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016651	-	PubMed: Savoia 2011,PubMed: Savoia 2014	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016652	-	PubMed: Vettore 2011,PubMed: Savoia 2014	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016653	-	PubMed: de la Selle 1995, PubMed: Ulsemer 2000,PubMed: Savoia 2014	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	3	Anna Savoia
00016654	-	PubMed: Rosenberg 2007,PubMed: Savoia 2014	-	-	-	Uzbekistan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016655	-	PubMed: Imai 2009,PubMed: Savoia 2014	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016657	-	PubMed: Sumitha 2011,PubMed: Savoia 2014	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016658	-	PubMed: Kunishima 1994,PubMed: Savoia 2014	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016659	-	PubMed: Ware 1990	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016663	-	PubMed: Gohda 2007	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016664	-	PubMed: Li 1996	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016665	-	PubMed: Bartsch 2011	-	-	-	-	gypsy tribe	-	-	-	-	BSS	-	GP1BB	-	-	1	Anna Savoia
00016666	-	PubMed: Strassel 2004	-	-	-	Saudi Arabia	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016667	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016668	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016669	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016670	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016671	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016672	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016673	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016674	-	PubMed: Simsek et al 1994	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016675	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016676	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016677	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016678	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	2	Anna Savoia
00016679	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016680	-	PubMed: Hadjkacem 2010	-	-	-	Tunisia	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016681	-	PubMed: Li 1995	-	-	-	-	African-American	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016682	-	PubMed: Hadjkacem 2009,PubMed: Hadjkacem 2010	-	-	-	Tunisia	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016683	-	PubMed: Antonucci 2000	-	-	-	-	African-American	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016684	-	PubMed: De Marco 1990, PubMed: Ware 1993	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016685	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016686	-	PubMed: Kanaji 1997	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016687	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016688	-	PubMed: Ali 2013	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016689	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016690	-	PubMed: Bowers 2006	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016691	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016692	-	PubMed: Ali 2013	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016693	-	PubMed: Gohda 2007	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016694	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016695	-	PubMed: Noda 1995	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016699	-	PubMed: Mitsui 1998	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016700	-	PubMed: Ali 2014	-	-	-	India	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	2	Anna Savoia
00016702	-	PubMed: Kenny 1997	-	-	-	Germany	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016704	-	PubMed: Afshar-Kharghan 1997	-	-	-	Germany	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016706	-	PubMed: Koskela 1999	-	-	-	Finland	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016712	-	PubMed: Yamamoto 2013	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	1	1	Anna Savoia
00016714	-	PubMed: Afshar-Kharghan 2000	-	-	-	Germany	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016715	-	PubMed: Kenny 1998	-	-	-	Iceland	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	2	Anna Savoia
00016716	-	PubMed: Koskela 1999	-	-	-	Finland	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016717	-	PubMed: Margaglione 1999	-	-	-	Italy	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016718	-	PubMed: Strassel 2003	-	-	-	Algeria	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016719	-	PubMed: Gonzalez-Manchon 2001	-	-	-	Spain	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	2	Anna Savoia
00016721	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016722	-	PubMed: Yamamoto 2013	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016724	-	PubMed: Kanaji 1997	-	-	-	-	-	-	-	-	-	BSS	-	GP1BA	GP1BA	2	1	Anna Savoia
00016725	-	PubMed: Kunishima et al 2000	-	-	-	Japan	-	-	-	-	-	BSS	-	-	-	-	1	Anna Savoia
00016726	-	PubMed: Kunishima 2000	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016727	-	PubMed: Kunishima 2002	-	-	-	Japan	-	-	-	-	-	BSS	-	GP1BB	GP1BB	1	1	Anna Savoia
00016728	-	PubMed: Savoia 2014	-	-	-	Spain	-	-	-	-	-	BSS	-	GP9	GP9	1	1	Anna Savoia
00016729	-	PubMed: Sumitha 2011	-	-	-	India	-	-	-	-	-	BSS	-	GP1BB	GP1BA, GP1BB	3	1	Anna Savoia

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

Global Variome shared LOVD

NAA20 (N(alpha)-acetyltransferase 20, NatB catalyti...)