• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (PubMed=16947863).
  
• Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Arg425Ter (c.1273C>T); ClinVar=VCV000016585; Zygosity=Heterozygous (PubMed=16947863).
  

PubMed=16947863; DOI=10.1002/humu.20392
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Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)

PubMed=26884178; DOI=10.1073/pnas.1519444113; PMCID=PMC4780618
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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)