• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Pro206Leu (c.617C>T); ClinVar=VCV000004426; Zygosity=Heterozygous (PubMed=15044383).
  
• Mutation; HGNC; HGNC:15984; APTX; Simple; p.Val263Gly (c.788T>G); ClinVar=VCV000004428; Zygosity=Heterozygous (PubMed=15044383).
  

PubMed=15044383; DOI=10.1093/hmg/ddh122
Gueven N., Becherel O.J., Kijas A.W., Chen P., Howe O., Rudolph J.H., Gatti R.A., Date H., Onodera O., Taucher-Scholz G., Lavin M.F.
Aprataxin, a novel protein that protects against genotoxic stress.
Hum. Mol. Genet. 13:1081-1093(2004)

PubMed=17562789; DOI=10.1083/jcb.200701042; PMCID=PMC2064358
Suraweera A., Becherel O.J., Chen P., Rundle N., Woods R., Nakamura J., Gatei M., Criscuolo C., Filla A., Chessa L., Fusser M., Epe B., Gueven N., Lavin M.F.
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
J. Cell Biol. 177:969-979(2007)

PubMed=19643912; DOI=10.1093/hmg/ddp359
Harris J.L., Jakob B., Taucher-Scholz G., Dianov G.L., Becherel O.J., Lavin M.F.
Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Hum. Mol. Genet. 18:4102-4117(2009)