• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Arg263Ter (c.787C>T) (984C>T); ClinVar=VCV000016570; Zygosity=Heterozygous (PubMed=9096355).
  
• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ser659Valfs*1 (c.1975delA) (2172delA); ClinVar=VCV001696064; Zygosity=Heterozygous (PubMed=9096355).
  

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=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331
Thierry Nouspikel, Philippe Lalle, Steven Anthony Leadon, Priscilla K. Cooper, Stuart Gordon Clarkson;
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
Proc. Natl. Acad. Sci. U.S.A. 94:3116-3121(1997)

PubMed=11841555; DOI=10.1046/j.0022-202x.2001.01673.x
Philippe Lalle, Thierry Nouspikel, Angelos Constantinou, Fabrizio Thorel, Stuart Gordon Clarkson;
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
J. Invest. Dermatol. 118:344-351(2002)

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)