• 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
Anneke M. Sijbers, Pieter C. van Voorst Vader, Jos W. Snoek, Anja Raams, Nicolaas G.J. Jaspers, Wim J. Kleijer;
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
Anwaar Ahmad, Jacqueline Henriette Enzlin, Nikhil R. Bhagwat, Nils Wijgers, Anja Raams, Esther Appledoorn, Arjan F. Theil, Jan Hendrik Jozef Hoeijmakers, Wim Vermeulen, Nicolaas G.J. Jaspers, Orlando David Scharer, Laura J. Niedernhofer;
Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
PLoS Genet. 6:e1000871.1-e1000871.11(2010)