• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Heterozygous (PubMed=9579555).
  

PubMed=9579555; DOI=10.1046/j.1523-1747.1998.00171.x
Sijbers A.M., van Voorst Vader P.C., Snoek J.W., Raams A., Jaspers N.G.J., Kleijer W.J.
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
J. Invest. Dermatol. 110:832-836(1998)

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)