• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Leu461Val (c.1381C>G); ClinVar=VCV000016779; Zygosity=Heterozygous (PubMed=8571952).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg658His (c.1973G>A); ClinVar=VCV001499293; Zygosity=Heterozygous (PubMed=8571952).
  
• Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Ala717Gly (c.2150C>G) (p.Val716_Arg730del); ClinVar=VCV000134102; Zygosity=Heterozygous; Note=Creates a cryptic donor splice site (PubMed=8571952).
  

PubMed=7671243
Eric Eveno, Francois Bourre, Xavier Quilliet, Odile Chevallier-Lagente, Len Roza, Andre P.M. Eker, Wim J. Kleijer, Osamu Nikaido, Miria Stefanini, Jan Hendrik Jozef Hoeijmakers, Dirk Bootsma ...Show all 14 authors... , James Edward Cleaver, Alain Sarasin, Mauro Mezzina; Show fewer authors
Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.
Cancer Res. 55:4325-4332(1995)

PubMed=8571952; PMCID=PMC1914548
Kyoko Takayama, Edmund P. Salazar, Bernard C. Broughton, Alan Robert Lehmann, Alain Sarasin, Lawrence H. Thompson, Christine A. Weber;
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Am. J. Hum. Genet. 58:263-270(1996)

PubMed=9012405; PMCID=PMC1712398
Geert Weeda, Eric Eveno, Ingrid Donker, Wim Vermeulen, Odile Chevallier-Lagente, Alain Taieb, Anne Stary, Jan Hendrik Jozef Hoeijmakers, Mauro Mezzina, Alain Sarasin;
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Am. J. Hum. Genet. 60:320-329(1997)