KEGG   VARIANT: 3073v1
Entry
3073v1                      Variant                                
Name
HEXA deficiency
Gene
HEXA  hexosaminidase subunit alpha [KO:K12373]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606869
Network
nt06014  Sphingolipid degradation
Disease
H02016  Tay-Sachs disease
Reference
PMID:9090523
  Authors
Myerowitz R
  Title
Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.
  Journal
Hum Mutat 9:195-208 (1997)
DOI:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7
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