• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Ala792Val (c.2375C>T) (2572C>T); ClinVar=VCV000016567; Zygosity=Heterozygous (from autologous cell line XP125LO LCL).
  
• Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Glu960Ter (c.2878G>T) (3075G>T); ClinVar=VCV000016566; Zygosity=Heterozygous (from autologous cell line XP125LO LCL).
  

PubMed=3620347; DOI=10.1111/j.1365-2133.1987.tb04906.x
Norris P.G., Hawk J.L.M., Avery J.A., Giannelli F.
Xeroderma pigmentosum complementation group G -- report of two cases.
Br. J. Dermatol. 116:861-866(1987)

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=9096355; DOI=10.1073/pnas.94.7.3116; PMCID=PMC20331
Nouspikel T., Lalle P., Leadon S.A., Cooper P.K., Clarkson S.G.
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
Lalle P., Nouspikel T., Constantinou A., Thorel F., Clarkson S.G.
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
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)