All individuals with variants in gene ERCC4

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.

43 entries on 1 page. Showing entries 1 - 43.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000052	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000090	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00001638	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	F	-	Spain	white	-	-	-	-	cancer, predisposition	from high-risk familial breast and ovarian cancer pedigrees	1	1	Ana Osorio
00001649	-	PubMed: Osorio 2013, Journal: Osorio 2013	found in 2 unrelated controls	-	-	Spain	white	-	-	-	-	Healthy/Control	-	1	2	Ana Osorio
00001650	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	cancer, predisposition	high-risk familial breast and ovarian cancer pedigrees	1	1	Ana Osorio
00001651	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	cancer, predisposition	high-risk familial breast and ovarian cancer pedigrees	1	1	Ana Osorio
00001652	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	cancer, predisposition	high-risk familial breast and ovarian cancer pedigrees	1	1	Ana Osorio
00001653	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	Healthy/Control	-	1	1	Ana Osorio
00001654	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	Healthy/Control	-	1	1	Ana Osorio
00001655	-	PubMed: Osorio 2013, Journal: Osorio 2013	-	-	-	Spain	white	-	-	-	-	cancer, predisposition	high-risk familial breast and ovarian cancer pedigrees	1	1	Ana Osorio
00020018	-	PubMed: Bogliolo 2013	-	F	no	? (unknown)	-	-	-	-	-	FANCQ	bilateral absent thumbs, microsomy, esophageal atresia, a ventrally translocated anus, dysplastic and low-set ears; Nodermatological abnormality such as skin hyperpigmentation, photosensitivity, sunlight-induced scarring, or atrophy; BMF at the age of 2 years	2	1	Arleen D. Auerbach
00020019	-	PubMed: Bogliolo 2013	-	?	no	? (unknown)	-	-	-	-	-	FANCQ	such as perinatal growth retardation, short stature, pronounced microcephaly, cafe¥-au-lait spots, an ostium-primum defect, biliary atresia with fibrosis of the liver, BMF;no spontaneous or UV-light-induced skin lesions	2	1	Arleen D. Auerbach
00073135	-	ATX412	-	M	-	France	-	-	-	-	-	XPF	-	1	1	Claire Guissart
00132618	PatCALIF1010	PubMed: Mori 2018	-	F	no	United States	-	-	-	-	-	progeroid	see paper; ...	2	1	Junko Oshima
00132619	PatMME1010	PubMed: Mori 2018	-	F	no	Mexico	-	-	-	-	-	progeroid	see paper; ..., 54y-bilateral cataracts , tight atrophic skin: 30y-graying and thinning of hair; type II diabetes mellitus, osteoporosis, overall aged appearance; 68y-height 162 cm, weight 40 kg; 56y-papillary thyroid cancer; no cognitive impairment, no sun sensitivity; sister possibly affected	2	1	Junko Oshima
00230641	-	-	-	F	-	-	-	-	-	-	-	?	HP:0002072 (Chorea)	1	1	IMGAG
00291364	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	11	Mohammed Faruq
00291365	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00291366	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291367	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00291368	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	156	Mohammed Faruq
00291369	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00291370	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00291371	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	34	Mohammed Faruq
00291372	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	110	Mohammed Faruq
00301100	-	-	-	F	-	(Germany)	-	-	-	-	-	?	Dementia (HP:0000726); Personality changes (HP:0000751); Chorea (HP:0002072); Global brain atrophy (HP:0002283); Hyperkinetic movements (HP:0002487); Motor impersistence (HP:0040200); Cognitive impairment (HP:0100543); Broad-based gait (HP:0002136)	2	1	IMGAG
00304491	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304492	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00304493	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00304494	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00306119	PatCS1USAU	PubMed: Kashiyama 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Japan	-	-	-	-	-	CS	prenatal microcephaly; born 41w, weight 2.9 kg, OFC 9th percentile first few months, OFC 1y-<2nd percentile; first year developed normally; 5y-multiple unusual plantar warts hands and forearms, unusual freckling hands and back of neck, tended to burn easily and quickly, no bad blisterering when exposed to sunlight; 7y-deep-set eyes, progressive scoliosis, multiple contractures feet, required lengthening Achilles tendon because of muscle cramps in hamstrings and calves; skin deeply pigmented, rashes, flat freckles; moderate bilateral hearing impairment, especially higher tones (<3y-normal hearing), short stature (height 110.4 cm [<2nd percentile], weight of 16.3 kg [<3rd percentile]), microcephaly (OFC 45.5 cm [<2nd percentile]), circulatory problems, bilateral astigmatism, no cataracts, attention deficit hyperactivity disorder, learning disability; MRI brain 3y-some delayed myelination, 7y-basal ganglia T1 shortening; severe migraines and headaches, ambulation lessened over time, gastrostomy-jejunostomy tube for feeding	2	1	Johan den Dunnen
00306122	PatXPCS1CD	PubMed: Kashiyama 2013	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	12y	-	-	-	CS	see paper; ..., 12y-deceased	2	1	Johan den Dunnen
00306174	PatXP126LO	PubMed: Sijbers 1996, PubMed: Norris 1988	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XP	-	4	1	Johan den Dunnen
00306175	PatXP42RO	PubMed: Sijbers 1998	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	M	-	Netherlands	white	-	-	-	-	XP	see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy	1	2	Johan den Dunnen
00306176	PatXP51RO	PubMed: Niedernhofer 2006	-	M	-	Afghanistan	-	-	-	-	-	progeroid	see paper; ..., frequent sunburns, unique combination of progeroid symptoms, neurologic; hepatobiliary, musculoskeletal and haematopoietic symptoms	1	1	Johan den Dunnen
00306177	PatXP26BR	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	-	1	1	Johan den Dunnen
00306178	PatXP32BR	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	-	2	1	Johan den Dunnen
00306179	PatAS871	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	severe XP with neurodegeneratio	2	1	Johan den Dunnen
00306180	PatXP62RO	PubMed: Ahmad 2010	sib of XP42RO	-	-	-	-	-	-	-	-	XP	mild XP, late onset neurodegeneration	1	1	Johan den Dunnen
00306181	PatXP24KY	PubMed: Matsumura 1998	-	F	-	Japan	-	-	-	-	-	XP	see paper; ...	1	1	Johan den Dunnen
00306182	PatXP24BR	PubMed: Berneburg 2000,PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	severe XP, neurodegeneration, no skin cancer	2	1	Johan den Dunnen
00406933	588893	PubMed: Jiang 2022	analysis 486 colorectal cancer patients	M	-	China	-	-	-	-	-	cancer, colon	colon cancer (rectum), stage 0); colorectal cancer (mother; sister)	1	1	Johan den Dunnen
00406934	592158	PubMed: Jiang 2022	analysis 486 colorectal cancer patients	F	-	China	-	-	-	-	-	cancer, colon	colon cancer (hepatic flexure), stage IV); mismatch repair status proficient; no family history	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

ERCC4 (excision repair cross-complementing rodent r...)