KEGG   VARIANT: 2071v1
Entry
2071v1                      Variant                                
Name
ERCC3 mutation
Type
Loss of function
Gene
ERCC3  ERCC excision repair 3, TFIIH core complex helicase subunit [KO:K10843]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133510
Network
nt06502  Nucleotide excision repair
Disease
H00076  Cockayne syndrome
H00866  Trichothiodystrophy
H01428  Xeroderma pigmentosum
Reference
PMID:16947863
  Authors
Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH
  Title
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
  Journal
Hum Mutat 27:1092-103 (2006)
DOI:10.1002/humu.20392
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