Disease #01826 (GSD6 (storage disease, glycogen, type VI (GSD6)), OMIM:232700)

Official abbreviation	GSD6
Name	storage disease, glycogen, type VI (GSD6)
OMIM ID	232700
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	61
Phenotype entries for this disease	59
Associated with 1 gene	PYGL
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-02-02 08:32:47 +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'

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61 entries on 1 page. Showing entries 1 - 61.

Legend

How to query

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
00095239	GSD6_P48	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095240	GSD6_P5	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095242	GSD6_P17	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095245	GSD6_P54	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095246	GSD6_P25	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095247	?	-	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00095248	GSD6_P37	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095249	GSD6_P12	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00095250	GSD6_P15	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095251	GSD6_P10	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095252	GSD6_P36	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095253	GSD6_P29	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095268	GSD6_P3	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095269	GSD6_P6	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095270	GSD6_P49	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095271	GSD6_P14	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095272	GSD6_P46	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095273	GSD6_P28	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095274	GSD6_P16	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095275	GSD6_P23	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00095276	GSD6_P53	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095311	GSD6_P9	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095312	GSD6_P4	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095313	GSD6_P13	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095314	GSD6_P18	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00095315	GSD6_P41	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095316	?	-	-	M	no	China	chinese han	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095317	GSD6_P19	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00095318	GSD6_P31	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00153302	GSD6_P21	PubMed: Luo 2022	-	M	-	China	Chinese	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00153303	GSD6_P40	PubMed: Luo 2022	-	M	yes	China	-	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00153304	GSD6_P32	PubMed: Luo 2022	-	M	yes	China	-	-	-	-	uncooked corn starch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00222880	-	-	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	GSD6	-	PYGL	PYGL	2	1	Shu Yau
00222881	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	GSD6	-	PYGL	PYGL	2	1	Shu Yau
00222882	-	-	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	GSD6	-	PYGL	PYGL	2	1	Shu Yau
00295495	Pat2;GSD6_P26	PubMed: Luo 2020, PubMed: Luo 2022	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	see paper; ...	PYGL	PYGL	2	1	Wenjuan Qiu
00295511	Pat1;GSD6_P39	PubMed: Luo 2020, PubMed: Luo 2022	2 generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	China	Chinese	-	-	-	uncooked cornstarch	GSD6	see paper; ...	PYGL	PYGL	1	1	Wenjuan Qiu
00329120	GSD6_P47	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329121	GSD6_P20	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329122	GSD6_P22	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329123	GSD6_P35	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329124	GSD6_P38	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329125	GSD6_P50	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329126	GSD6_P7	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329127	GSD6_P51	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329128	GSD6_P42	PubMed: Luo 2022	-	M	yes	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00329129	GSD6_P44	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329138	GSD6_P1	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329139	GSD6_P27	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329140	GSD6_P11	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329141	GSD6_P43	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329142	GSD6_P34	PubMed: Luo 2022	-	M	yes	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00329143	GSD6_P30	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	1	1	Wenjuan Qiu
00329144	GSD6_P8	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329145	GSD6_P2	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329146	GSD6_P45	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329147	GSD6_P33	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329148	GSD6_P24	PubMed: Luo 2022	-	M	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00329149	GSD6_P52	PubMed: Luo 2022	-	F	no	China	Chinese	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00377088	GSD6_P55	PubMed: Luo 2022	-	M	no	China	Chinese han	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu
00377089	GSD6_P56	PubMed: Luo 2022	-	M	no	China	Chinese han	-	-	-	uncooked cornstarch	GSD6	-	PYGL	PYGL	2	1	Wenjuan Qiu

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How to query

Global Variome shared LOVD

MTMR14 (myotubularin related protein 14)