KEGG   VARIANT: 5429v1
Entry
5429v1                      Variant                                
Name
POLH mutation
Type
Loss of function
Gene
POLH  DNA polymerase eta isoform 1 [KO:K03509]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603968
Network
nt06502  Nucleotide excision repair
Disease
H01428  Xeroderma pigmentosum
Reference
PMID:16267001
  Authors
Albertella MR, Green CM, Lehmann AR, O'Connor MJ
  Title
A role for polymerase eta in the cellular tolerance to cisplatin-induced damage.
  Journal
Cancer Res 65:9799-806 (2005)
DOI:10.1158/0008-5472.CAN-05-1095
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