Disease #05358 (BTHLM (myopathy, Bethlem (BTHLM)))

Official abbreviation	BTHLM
Name	myopathy, Bethlem (BTHLM)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	38
Phenotype entries for this disease	38
Associated with 4 genes	COL12A1, COL6A1, COL6A2, COL6A3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-12-28 09:26:43 +01:00 (CET)
Date last edited	N/A

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
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Bahamas
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Bahrain
(Bahrain)
Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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
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Martinique
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Mauritania
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Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
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Monaco
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Mongolia
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Montserrat
(Montserrat)
Morocco
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Mozambique
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Myanmar
(Myanmar)
Namibia
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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

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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Example	Matches
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38 entries on 1 page. Showing entries 1 - 38.

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
00146420	-	-	-	M	no	United States	Italian;American-Indian	46y	-	-	-	BTHLM	childhood onset slowly progressive limb-girdle myopathy with joint contractures in fingers ("prayer sign")	COL6A1	COL6A1	1	1	Payam Soltanzadeh
00392748	188497	-	-	F	no	Germany	-	-	-	-	-	BTHLM	Global developmental delay, Delayed ability to walk, Motor delay, Delayed gross motor development	COL12A1	COL12A1	1	1	Andreas Laner
00411326	FamPatVIII:1	PubMed: Bryen 2022	8-generation family, affected sister/brother, unaffected heterozygous carrier parents (fourth cousin)/relatives	F	yes	Australia	white	-	-	>43y	-	BTHLM	see paper; ..., myopathy; unremarkable pregnancy; 1d-hypotonia, soft skin, delayed motor milestones	-	COL6A2	1	2	Sandra Cooper
00419929	daughter	-	2-generation family, mildly affected father and more severly affected daughter	F	-	France	-	-	-	-	-	BTHLM	-	-	COL6A2	2	2	Svetlana Gorokhova
00426476	-	-	index case	F	no	Argentina	-	-	-	-	-	BTHLM, UCMD	-	-	COL6A3	1	1	María Eugenia Foncuberta
00442613	Fam1PatA	PubMed: Panades de Oliveira 2019	patient, no family history	F	-	Spain	-	-	-	-	-	BTHLM	CK <170 IU/L; MRI muscle typical; muscle biopsy lobulated fibers; onset childhood; weakness facial, cervical, proximal UL and LL; contractures wrists, interphalangeal, ankles; scoliosis; no cutaneous alterations; non invasive mechanical ventilation	-	COL6A1	1	1	Johan den Dunnen
00442614	Fam2PatA	PubMed: Panades de Oliveira 2019	patient, brother with Steinert disease	M	-	Spain	-	-	-	-	-	BTHLM	CK 450 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness proximal UL and LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1	1	1	Johan den Dunnen
00442615	Fam3PatA	PubMed: Panades de Oliveira 2019	patient, no family history	M	-	Spain	-	-	-	-	-	BTHLM	CK <170 IU/L; MRI muscle typical; muscle biopsy dystrophy; onset childhood; weakness cervical, proximal UL and LL; contractures elbows, wrists, interphalangeal, ankles; no scoliosis; cigarette paper scars; non invasive mechanical ventilation	-	COL6A1	1	1	Johan den Dunnen
00442616	Fam4PatA	PubMed: Panades de Oliveira 2019	family, 3 affected sibs	M	-	Spain	-	-	-	-	-	BTHLM	CK 2800 IU/L; MRI muscle unilateral medial gastrocnemius peripheral infiltration; muscle biopsy minimum non-specific changes; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1	1	3	Johan den Dunnen
00442617	Fam4PatB	PubMed: Panades de Oliveira 2019	brother	M	-	Spain	-	-	-	-	-	BTHLM	CK 570 IU/L; MRI muscle normal; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1	1	1	Johan den Dunnen
00442618	Fam4PatC	PubMed: Panades de Oliveira 2019	mother	F	-	Spain	-	-	-	-	-	BTHLM	CK <170 IU/L; MRI muscle normal; weakness cervical, fingers, proximal LL; contractures interphalangeal, ankles; scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1	1	1	Johan den Dunnen
00442619	Fam5PatA	PubMed: Panades de Oliveira 2019	patient, no family history	M	-	Spain	-	-	-	-	-	BTHLM	CK 1200 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness proximal UL and LL; contractures interphalangeal, knees; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1	1	1	Johan den Dunnen
00442620	Fam6PatA	PubMed: Panades de Oliveira 2019	patient, no family history	M	-	Spain	-	-	-	-	-	BTHLM	CK <170 IU/L; MRI muscle typical; onset childhood; weakness proximal and distal UL, proximal LL; contractures elbows, wrists, interphalangeal; no scoliosis; hyper-keratosis; no entilatory insufficiency	-	COL6A1	1	1	Johan den Dunnen
00442621	Fam7PatA	PubMed: Panades de Oliveira 2019	patient, no family history	M	-	Spain	-	-	-	-	-	BTHLM	CK 230 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness facial, cervical, proximal UL and LL; contractures interphalangeal; no scoliosis; cheloids; no entilatory insufficiency	-	COL6A2	1	1	Johan den Dunnen
00442622	Fam8PatA	PubMed: Panades de Oliveira 2019	patient, no family history	F	-	Spain	-	-	-	-	-	BTHLM	CK 800 IU/L; MRI muscle typical; muscle biopsy dystrophy; onset childhood; weakness cervical, proximal UL and LL; contractures elbows, ankles; no scoliosis; no cutaneous alterations; reduced maximal expiratory pressure	-	COL6A3	2	1	Johan den Dunnen
00442623	Fam9PatA	PubMed: Panades de Oliveira 2019	family, 2 affected sibs	M	-	Spain	-	-	-	-	-	BTHLM	CK 4000 IU/L; MRI muscle typical; muscle biopsy dystrophy, rimmed vacuoles; onset childhood; weakness proximal LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A3	1	2	Johan den Dunnen
00442624	Fam9PatB	PubMed: Panades de Oliveira 2019	brother	M	-	Spain	-	-	-	-	-	BTHLM	CK 1000 IU/L; MRI muscle typical; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A3	1	1	Johan den Dunnen
00442625	Fam10PatA	PubMed: Panades de Oliveira 2019	family, 3 affected sibs	F	-	Spain	-	-	-	-	-	BTHLM	CK 250 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness distal UL and proximal LL; no contractures; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A3	1	3	Johan den Dunnen
00442626	Fam10PatB	PubMed: Panades de Oliveira 2019	sister	F	-	Spain	-	-	-	-	-	BTHLM	CK <170 IU/L; MRI muscle typical; muscle biopsy dystrophy; weakness distal UL and proximal LL; no contractures; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A3	1	1	Johan den Dunnen
00442627	Fam10PatC	PubMed: Panades de Oliveira 2019	brother	M	-	Spain	-	-	-	-	-	BTHLM	CK 220 IU/L; MRI muscle typical; weakness proximal UL and LL; contractures interphalangeal, wrists; no scoliosis; cheloids; no entilatory insufficiency	-	COL6A3	1	1	Johan den Dunnen
00442628	Fam11PatA	PubMed: Panades de Oliveira 2019	patient, father probable Bethlem disease (deceased, contractures)	F	-	Spain	-	-	-	-	-	BTHLM	CK 830 IU/L; MRI muscle typical; onset childhood; weakness distal LL; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency	-	COL6A1, COL6A3	2	1	Johan den Dunnen
00444985	F1	PubMed: Morel 2023, Journal: Morel 2023	-	F	-	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	1	Victor Morel
00444986	F2.1/F2.2	PubMed: Morel 2023, Journal: Morel 2023	family, 2 affected	M	-	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	2	Victor Morel
00445011	F4	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	congenital feet deformity walking difficulties at 47yo	-	COL6A2	1	1	Victor Morel
00445012	F10	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	-	COL6A2	COL6A2	2	1	Victor Morel
00445013	F11	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	-	-	COL6A2	1	1	Victor Morel
00445014	F12	PubMed: Morel 2023, Journal: Morel 2023	-	M	no	France	-	-	-	-	-	BTHLM	difficulties to run during childhood; 55y-difficulties to walk	-	COL6A3	2	1	Victor Morel
00445016	F14	PubMed: Morel 2023, Journal: Morel 2023	-	M	no	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	4	Victor Morel
00445017	F15.1/15.2	PubMed: Morel 2023, Journal: Morel 2023	family, 2 affected	F	-	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	2	Victor Morel
00445018	F16	PubMed: Morel 2023, Journal: Morel 2023	-	F	-	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	1	Victor Morel
00445020	F18	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	Loss of walk at 10yo	-	COL6A1	1	1	Victor Morel
00445021	F19	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	-	-	COL6A1	1	1	Victor Morel
00445022	F22	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	-	-	COL6A2	1	1	Victor Morel
00445024	F24	PubMed: Morel 2023, Journal: Morel 2023	-	M	no	France	-	-	-	-	-	BTHLM	-	-	COL6A1, COL6A3	2	2	Victor Morel
00445139	F5.1/5.2	PubMed: Morel 2023, Journal: Morel 2023	family, 2 affected	F	-	France	-	-	-	-	-	BTHLM	see paper; ...	COL6A2	COL6A2	1	2	Victor Morel
00445140	F6	PubMed: Morel 2023, Journal: Morel 2023	-	F	-	France	-	-	-	-	-	BTHLM	see paper; ...	COL6A2	COL6A2	1	1	Victor Morel
00445142	F8	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	see paper; ...	COL6A2	COL6A2	1	1	Victor Morel
00445143	F9	PubMed: Morel 2023, Journal: Morel 2023	-	M	-	France	-	-	-	-	-	BTHLM	see paper; ...	COL6A2	COL6A2	1	1	Victor Morel

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How to query

Global Variome shared LOVD

GNAS-AS1 (GNAS antisense RNA 1)