• Mutation; HGNC; 3434; ERCC2; Simple; p.Arg669Glyfs*40 (c.2005delA); ClinVar=VCV000445466; Zygosity=Heterozygous (PubMed=7825573).
  
• Mutation; HGNC; 3434; ERCC2; Simple; p.Gly675Arg (c.2023G>C); Zygosity=Heterozygous (PubMed=7825573).
  

PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H
Cole J., Arlett C.F., Norris P.G., Stephens G., Waugh A.P.W., Beare D.M., Green M.H.L.
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Mutat. Res. 273:171-178(1992)

PubMed=7825573
Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W., Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A., Cole J., Arlett C.F., Lehmann A.R.
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Am. J. Hum. Genet. 56:167-174(1995)

PubMed=18079351; DOI=10.1259/bjr/27072321
Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)