• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Cys236Arg (c.706T>C); ClinVar=VCV000055827; Zygosity=Heterozygous (PubMed=23623389).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Arg589Trp (c.1765C>T); ClinVar=VCV000055829; Zygosity=Heterozygous (PubMed=23623389).
  

PubMed=23623389; DOI=10.1016/j.ajhg.2013.04.007; PMCID=PMC3644632
Kashiyama K., Nakazawa Y., Pilz D.T., Guo C.-W., Shimada M., Sasaki K., Fawcett H., Wing J.F., Lewin S.O., Carr L., Li T.-S., Yoshiura K.-i., Utani A., Hirano A., Yamashita S., Greenblatt D., Nardo T., Stefanini M., McGibbon D., Sarkany R.P.E., Fassihi H., Takahashi Y., Nagayama Y., Mitsutake N., Lehmann A.R., Ogi T.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Am. J. Hum. Genet. 92:807-819(2013)

PubMed=30165384; DOI=10.1093/nar/gky774; PMCID=PMC6182131
Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K., Voskamp C., Lans H., Vermeulen W.
Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Nucleic Acids Res. 46:9563-9577(2018)