KEGG   VARIANT: 2584v1
Entry
2584v1                      Variant                                
Name
GALK1 deficiency
Gene
GALK1  galactokinase 1 [KO:K00849]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604313
Network
nt06023  Galactose degradation
Disease
H02009  Galactokinase deficiency
Reference
PMID:7670469
  Authors
Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ
  Title
Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.
  Journal
Nat Genet 10:307-12 (1995)
DOI:10.1038/ng0795-307
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