KEGG   VARIANT: 7507v1
Entry
7507v1                      Variant                                
Name
XPA mutation
Type
Loss of function
Gene
XPA  DNA repair protein complementing XP-A cells isoform 1 [KO:K10847]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611153
Network
nt06502  Nucleotide excision repair
Disease
H01428  Xeroderma pigmentosum
Reference
PMID:2234061
  Authors
Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y
  Title
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
  Journal
Nature 348:73-6 (1990)
DOI:10.1038/348073a0
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