• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Cys236Arg (c.706T>C); ClinVar=VCV000055827; Zygosity=Heterozygous (PubMed=23623389).
  
• Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Tyr577Ter (c.1730dupA); ClinVar=VCV000055828; Zygosity=Heterozygous (PubMed=23623389).
  

PubMed=23623389; DOI=10.1016/j.ajhg.2013.04.007; PMCID=PMC3644632
Kazuya Kashiyama, Yuka Nakazawa, Daniela T. Pilz, Chao-Wan Guo, Mayuko Shimada, Kensaku Sasaki, Heather Fawcett, Jonathan F. Wing, Susan O. Lewin, Lucinda Carr, Tao-Sheng Li ...Show all 26 authors... , Koh-ichiro Yoshiura, Atsushi Utani, Akiyoshi Hirano, Shunichi Yamashita, Danielle Greenblatt, Tiziana Nardo, Miria Stefanini, David McGibbon, Robert Paul Edmond Sarkany, Hiva Fassihi, Yoshito Takahashi, Yuji Nagayama, Norisato Mitsutake, Alan Robert Lehmann, Tomoo Ogi; Show fewer authors
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
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)