ID   FA17P
AC   CVCL_VH74
DR   JCRB; KURB1468
DR   Wikidata; Q54833171
RX   DOI=10.1007/0-387-33776-8_11;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 3588; FANCG; Simple; c.307+1G>C (IVS3+1G>C); ClinVar=VCV000006714; Zygosity=Homozygous; Note=Splice donor mutation (DOI=10.1007/0-387-33776-8_11).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C125708; Fanconi anemia, complementation group G
DI   ORDO; Orphanet_84; Fanconi anemia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   11Y
CA   Finite cell line
DT   Created: 14-05-18; Last updated: 29-06-23; Version: 9
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RX   DOI=10.1007/0-387-33776-8_11;
RA   Tachibana A.;
RT   "Mutational analyses of Fanconi anemia genes in Japanese patients.";
RL   (In book chapter) Molecular mechanisms of Fanconi anemia; Ahmad S.I., Kirk S.H. (eds.); pp.103-114; Springer; New York; USA (2006).
//