• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Thr770Profs*46 (c.2304_2307delTCTC) (2281del4); ClinVar=VCV000016579; Zygosity=Heterozygous (PubMed=8797827).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg799Trp (c.2395C>T) (R788W); ClinVar=VCV000016580; Zygosity=Heterozygous (PubMed=8797827).
  

PubMed=8797827; DOI=10.1016/S0092-8674(00)80155-5
Anneke M. Sijbers, Wouter L. de Laat, Rafael R. Ariza, Maureen Biggerstaff, Ying-Fei Wei, Jonathan G. Moggs, Kenneth C. Carter, Brenda K. Shell, Elizabeth Evans, Mariska C. de Jong, Suzanne Rademakers ...Show all 15 authors... , Johan de Rooij, Nicolaas G.J. Jaspers, Jan Hendrik Jozef Hoeijmakers, Richard Dean Wood; Show fewer authors
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
Cell 86:811-822(1996)

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)