ID   FG4003
AC   CVCL_ZT69
DR   Wikidata; Q98126025
RX   PubMed=15044383;
CC   Sequence variation: Mutation; HGNC; HGNC:15984; APTX; Simple; p.Glu232Glyfs*38 (c.689dupT) (167insT) (689insT); ClinVar=VCV000004425; Zygosity=Heterozygous (PubMed=15044383).
CC   Sequence variation: Mutation; HGNC; HGNC:15984; APTX; Simple; p.Ser281Leufs*8 (c.841delT) (318delT) (840delT); ClinVar=VCV000004427; Zygosity=Heterozygous (PubMed=15044383).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C173401; Ataxia-oculomotor apraxia type 1
DI   ORDO; Orphanet_1168; Ataxia-oculomotor apraxia type 1
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
//
RX   PubMed=15044383; DOI=10.1093/hmg/ddh122;
RA   Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H.,
RA   Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.;
RT   "Aprataxin, a novel protein that protects against genotoxic stress.";
RL   Hum. Mol. Genet. 13:1081-1093(2004).
//