• Mutation; HGNC; 3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (Coriell=GM10430).
  
• Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (Coriell=GM10430).
  

PubMed=4811796; DOI=10.7326/0003-4819-80-2-221
Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.
Xeroderma pigmentosum. An inherited disease with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.
Ann. Intern. Med. 80:221-248(1974)

PubMed=273925; DOI=10.1073/pnas.75.4.1984
Andrews A.D., Barrett S.F., Robbins J.H.
Xeroderma pigmentosum neurological abnormalities correlate with colony-forming ability after ultraviolet radiation.
Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978)

PubMed=643622; DOI=10.1093/nar/5.3.951
Kuhnlein U., Lee B., Penhoet E.E., Linn S.M.
Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA endonuclease species with a low apparent Km.
Nucleic Acids Res. 5:951-960(1978)

PubMed=6409440; DOI=10.1093/carcin/4.7.911
Smith P.J., Greene M.H., Adams D., Paterson M.C.
Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of cultured fibroblasts from patients with dysplastic nevus syndrome and hereditary cutaneous malignant melanoma.
Carcinogenesis 4:911-916(1983)

PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162
Fujiwara Y., Satoh Y.
Assignment of two Japanese xeroderma pigmentosum patients to complementation group D and their characteristics.
Jpn. J. Cancer Res. 76:162-166(1985)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b
Johnson R.T., Squires S.
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutat. Res. 273:97-118(1992)

PubMed=30165384; DOI=10.1093/nar/gky774
Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K., Voskamp C., Lans H., Vermeulen W.
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)