• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Homozygous (PubMed=9238033; PubMed=26884178).
  

PubMed=1372100; DOI=10.1016/0921-8777(92)90078-H
Jane Cole, Colin Francis Arlett, Paul G. Norris, Gabriella Stephens, Alastair P.W. Waugh, David M. Beare, Michael H.L. Green;
Elevated hprt mutant frequency in circulating T-lymphocytes of xeroderma pigmentosum patients.
Mutat. Res. 273:171-178(1992)

PubMed=9238033; DOI=10.1073/pnas.94.16.8658; PMCID=PMC23065
Elaine M. Taylor, Bernard C. Broughton, Elena Botta, Miria Stefanini, Alain Sarasin, Nicolaas G.J. Jaspers, Heather Fawcett, Susan A. Harcourt, Colin Francis Arlett, Alan Robert Lehmann;
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Proc. Natl. Acad. Sci. U.S.A. 94:8658-8663(1997)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana Maria Susana Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan Robert Lehmann; Show fewer authors
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
Proc. Natl. Acad. Sci. U.S.A. 113:E1236-E1245(2016)