• Mutation; HGNC; HGNC:3439; ERCC8; Simple; p.Asn75Glnfs*9 (c.223_227del5); ClinVar=VCV001455112; Zygosity=Homozygous (PubMed=29572252).
  

PubMed=17297471; DOI=10.1038/sj.onc.1210232
Mariarosaria D'Errico, Eleonora Parlanti, Massimo Teson, Paolo Degan, Tiziana Lemma, Angelo Salvatore Calcagnile, Ivano Iavarone, Pawel Jaruga, Monica Ropolo, Antonia M. Pedrini, Donata Orioli ...Show all 16 authors... , Guido Frosina, Giovanna Zambruno, Miral Dizdaroglu, Miria Stefanini, Eugenia Dogliotti; Show fewer authors
The role of CSA in the response to oxidative DNA damage in human cells.
Oncogene 26:4336-4343(2007)

PubMed=29572252; DOI=10.1136/jmedgenet-2017-104877
Nadege Calmels, Elena Botta, Nan Jia, Heather Fawcett, Tiziana Nardo, Yuka Nakazawa, Manuela Lanzafame, Shinichi Moriwaki, Katsuo Sugita, Masaya Kubota, Cathy Obringer ...Show all 17 authors... , Marie-Aude Spitz, Miria Stefanini, Vincent Laugel, Donata Orioli, Tomoo Ogi, Alan R. Lehmann; Show fewer authors
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
J. Med. Genet. 55:329-343(2018)