ID   EUFA143
AC   CVCL_G057
SY   EUFA143B
DR   EFO; EFO_0022588
DR   Wikidata; Q54832891
RX   PubMed=9806548;
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:3588; FANCG; Simple; p.Glu105Ter (c.313G>T); ClinVar=VCV000006712; Zygosity=Homozygous (PubMed=9806548).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1-14Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 14
//
RX   PubMed=9806548; DOI=10.1038/3093;
RA   de Winter J.P., Waisfisz Q., Rooimans M.A., van Berkel C.G.M.,
RA   Bosnoyan-Collins L., Alon N., Carreau M., Bender O., Demuth I.,
RA   Schindler D., Pronk J.C., Arwert F., Hoehn H., Digweed M.,
RA   Buchwald M., Joenje H.;
RT   "The Fanconi anaemia group G gene FANCG is identical with XRCC9.";
RL   Nat. Genet. 20:281-283(1998).
//