KEGG   VARIANT: 2073v1
Entry
2073v1                      Variant                                
Name
ERCC5 mutation
Type
Loss of function
Gene
ERCC5  ERCC excision repair 5, endonuclease [KO:K10846]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 133530
Network
nt06502  Nucleotide excision repair
Disease
H00076  Cockayne syndrome
H01428  Xeroderma pigmentosum
H02570  Cerebro-oculo-facio-skeletal syndrome
Reference
PMID:35230528
  Authors
Muniesa-Vargas A, Theil AF, Ribeiro-Silva C, Vermeulen W, Lans H
  Title
XPG: a multitasking genome caretaker.
  Journal
Cell Mol Life Sci 79:166 (2022)
DOI:10.1007/s00018-022-04194-5
LinkDB

DBGET integrated database retrieval system