• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Pro379Ser (c.1135C>T); ClinVar=VCV000134148; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg589Trp (c.1765C>T); ClinVar=VCV000055829; Zygosity=Heterozygous (PubMed=20221251; PubMed=26884178).
  

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)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
Hiva Fassihi, Mieran Sethi, Heather Fawcett, Jonathan F. Wing, Natalie Chandler, Shehla Mohammed, Emma Craythorne, Ana Maria Susana Morley, Rong-Xuan Lim, Sally Turner, Tanya Henshaw ...Show all 25 authors... , Isabel Garrood, Paola Giunti, Tammy Hedderly, Adesoji Abiona, Harsha Naik, Gemma Harrop, David McGibbon, Nicolaas G.J. Jaspers, Elena Botta, Tiziana Nardo, Miria Stefanini, Antony R. Young, Robert Paul Edmond Sarkany, Alan Robert Lehmann; Show fewer authors
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)

PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131
Mariangela Sabatella, Arjan F. Theil, Cristina Ribeiro-Silva, Jana Slyskova, Karen Thijssen, Chantal Voskamp, Hannes Lans, Wim Vermeulen;
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)