• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (PubMed=16947863; PubMed=26184184).
  
• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (PubMed=16947863; PubMed=26184184).
  

PubMed=8317483; PMCID=PMC1682247
Wim Vermeulen, Jaak Jaeken, Nicolaas G.J. Jaspers, Dirk Bootsma, Jan Hendrik Jozef Hoeijmakers;
Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.
Am. J. Hum. Genet. 53:185-192(1993)

PubMed=8408834; DOI=10.1016/0190-9622(93)70263-s
Rodney James Scott, Peter Itin, Wim J. Kleijer, Kristoph Kolb, Colin Francis Arlett, Hansjakob Muller;
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.
J. Am. Acad. Dermatol. 29:883-889(1993)

PubMed=9012405; PMCID=PMC1712398
Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin;
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)

PubMed=16947863; DOI=10.1002/humu.20392
Kyu-Seon Oh, Sikandar G. Khan, Nicolaas G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan Robert Lehmann, Peter Simon Friedmann, Steffen Emmert, Alexei Gratchev, Katherine Lachlan, Anneke Lucassan ...Show all 13 authors... , Carl C. Baker, Kenneth H. Kraemer; Show fewer authors
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)

PubMed=18079351; DOI=10.1259/bjr/27072321
Colin Francis Arlett, Michael H.L. Green, Paul Bryan Rogers, Alan Robert Lehmann, Piers N. Plowman;
Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.
Br. J. Radiol. 81:51-58(2008)

PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934
Nikola A. Bowden, Natalie J. Beveridge, Katie A. Ashton, Katherine J. Baines, Rodney James Scott;
Understanding xeroderma pigmentosum complementation groups using gene expression profiling after UV-light exposure.
Int. J. Mol. Sci. 16:15985-15996(2015)

PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131
Mariangela Sabatella, Arjan F. Theil, Cristina Ribeiro-Silva, Jana Slyskova, Karen Thijssen, Chantal Voskamp, Hannes Lans, Wim Vermeulen;
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)