• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg589Trp (c.1765C>T); ClinVar=VCV000055829; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
  

PubMed=21566739; PMCID=PMC3022359
Gremmel T., Wild S., Schuller W., Kurten V., Dietz K., Krutmann J., Berneburg M.
Six genes associated with the clinical phenotypes of individuals with deficient and proficient DNA repair.
Transl. Oncogenomics 3:1-13(2008)

PubMed=20221251; DOI=10.1371/journal.pgen.1000871; PMCID=PMC2832669
Ahmad A., Enzlin J.H., Bhagwat N.R., Wijgers N., Raams A., Appledoorn E., Theil A.F., Hoeijmakers J.H.J., Vermeulen W., Jaspers N.G.J., Scharer O.D., Niedernhofer L.J.
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:E1000871-E1000871(2010)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Fassihi H., Sethi M., Fawcett H., Wing J.F., Chandler N., Mohammed S., Craythorne E., Morley A.M.S., Lim R.-X., Turner S., Henshaw T., Garrood I., Giunti P., Hedderly T., Abiona A., Naik H., Harrop G., McGibbon D., Jaspers N.G.J., Botta E., Nardo T., Stefanini M., Young A.R., Sarkany R.P.E., Lehmann A.R.
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)