KEGG   VARIANT: 2592v1
Entry
2592v1                      Variant                                
Name
GALT deficiency
Type
Loss of function
Gene
GALT  galactose-1-phosphate uridylyltransferase [KO:K00965]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606999
Network
nt06023  Galactose degradation
Disease
H02008  Galactose-1P uridylyltransferase deficiency
Reference
PMID:11261429
  Authors
Elsas LJ 2nd, Lai K
  Title
The molecular biology of galactosemia.
  Journal
Genet Med 1:40-8 (1998)
DOI:10.1097/00125817-199811000-00009
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