ID   EUFA353
AC   CVCL_G065
DR   Wikidata; Q54832907
RX   PubMed=10094191;
CC   Sequence variation: Mutation; HGNC; HGNC:3582; FANCA; Simple; p.Arg52Ter (c.154C>T); ClinVar=VCV000371668; Zygosity=Heterozygous (PubMed=10094191).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125702; Fanconi anemia, complementation group A
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 14
//
RX   PubMed=10094191; DOI=10.1038/sj.ejhg.5200248;
RA   Wijker M., Morgan N.V., Herterich S., van Berkel C.G.M., Tipping A.J.,
RA   Gross H.-J., Gille J.J.P., Pals G., Savino M., Altay C., Mohan S.,
RA   Dokal I., Cavenagh J.D., Marsh J., van Weel M., Ortega J.J., Schuler D.,
RA   Samochatova E., Karwacki M.W., Bekassy A.N., Abecasis M., Ebell W.,
RA   Kwee M.L., de Ravel T.J.L., Mathew C.G.;
RT   "Heterogeneous spectrum of mutations in the Fanconi anaemia group A
RT   gene.";
RL   Eur. J. Hum. Genet. 7:52-59(1999).
//