All individuals with variants in gene GAA

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.

1473 entries on 15 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11	...		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
00000004	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000031	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	3	1	Global Variome, with Curator vacancy
00000033	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000039	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	ADPKD	-	1	1	Global Variome, with Curator vacancy
00000048	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000057	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000075	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	2	1	Global Variome, with Curator vacancy
00000076	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000083	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000084	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00100967	?	PubMed: Kostera-Pruszczyk 2006	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00100968	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Gabriel Torrealba Acosta
00100969	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Gabriel Torrealba Acosta
00100970	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Gabriel Torrealba Acosta
00100971	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100972	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100973	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100974	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100975	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100976	?	PubMed: Hermans 1994	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100977	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100978	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00100979	?	PubMed: Hermans 1991	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100980	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100981	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100982	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100983	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100984	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100985	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100986	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100987	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100988	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100989	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00100990	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100991	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100992	?	PubMed: Martiniuk 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100993	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100994	?	PubMed: Hoefsloot 1990	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100995	?	PubMed: Zhong 1991	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	GSD2	severe	2	1	Arnold Reuser
00100996	?	PubMed: Hermans 1991, OMIM:var0003	2-generation family, 2 affecteds, unaffected heterozygous carrier parents	-	yes	India	-	-	-	-	-	GSD2	severe	1	2	Arnold Reuser
00100997	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100998	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00100999	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101000	?	PubMed: Tsujino 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101001	?	PubMed: Shieh 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101002	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101003	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101004	?	PubMed: Adams 1997	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101005	?	PubMed: Shieh 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101006	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101007	?	PubMed: Hermans 1993	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	-	-	-	-	-	-	GSD2	severe	2	1	Arnold Reuser
00101008	09521422-PatC	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	5	1	Arnold Reuser
00101009	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101010	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101011	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101012	?	PubMed: Castro-Gago 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101013	?	PubMed: Laforet 2000	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101014	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101015	?	PubMed: Becker 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101016	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101017	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101018	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101019	?	PubMed: Hermans 1993	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101020	?	PubMed: Hermans 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101021	?	PubMed: Kroos 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101022	?	PubMed: Hirschhorn 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101023	?	PubMed: Boerkoel 1995	-	-	-	-	-	-	-	-	-	GSD2	mild	1	1	Arnold Reuser
00101024	?	PubMed: Huie 1994b	-	-	-	-	-	-	-	-	-	GSD2	mild	1	1	Arnold Reuser
00101025	?	PubMed: Kroos 1995	-	-	-	-	-	-	-	-	-	GSD2	mild	1	1	Arnold Reuser
00101026	?	PubMed: Stroppiano 2001	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101027	?	PubMed: Huie 1994b	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101028	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101029	?	PubMed: Huie 1994	-	-	-	-	-	-	-	-	-	GSD2	intermediate	1	1	Arnold Reuser
00101030	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	intermediate	1	1	Arnold Reuser
00101031	?	PubMed: Hermans 1994	-	-	-	-	-	-	-	-	-	GSD2	intermediate	1	1	Arnold Reuser
00101032	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101033	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101034	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101035	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101036	?	PubMed: Huie 1994c	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101037	?	PubMed: Huie 1998	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101038	?	PubMed: Dagnino 2000	-	-	-	Italy	Sicilian	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101041	?	PubMed: Van der Kraan 1994	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101044	?	PubMed: Hirschhorn 1999	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101045	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101046	?	PubMed: Hermans 1997	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101047	?	PubMed: Raben 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101048	?	PubMed: Boerkoel 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101049	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101050	?	PubMed: Boerkoel 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101051	?	PubMed: Boerkoel 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101052	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101053	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101054	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101055	09521422-PatB	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	2	1	Arnold Reuser
00101056	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Arnold Reuser
00101057	?	PubMed: Lin 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101058	?	PubMed: Reuser 1995	-	-	-	-	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser
00101059	09521422-PatA	PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	2	1	Arnold Reuser
00101060	09521422-PatD	PubMed: Reuser 1995, PubMed: Hermans 1998	-	-	-	Turkey	-	-	-	-	-	GSD2	severe	1	1	Arnold Reuser

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Global Variome shared LOVD

GAA (glucosidase, alpha; acid)