KEGG   VARIANT: 7508v1
Entry
7508v1                      Variant                                
Name
XPC mutation
Type
Loss of function
Gene
XPC  XPC complex subunit, DNA damage recognition and repair factor [KO:K10838]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613208
Network
nt06502  Nucleotide excision repair
Disease
H01428  Xeroderma pigmentosum
Reference
PMID:8298653
  Authors
Li L, Bales ES, Peterson CA, Legerski RJ
  Title
Characterization of molecular defects in xeroderma pigmentosum group C.
  Journal
Nat Genet 5:413-7 (1993)
DOI:10.1038/ng1293-413
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