KEGG   VARIANT: 2131v1
Entry
2131v1                      Variant                                
Name
EXT1 mutation
Gene
EXT1  exostosin glycosyltransferase 1 [KO:K02366]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608177
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H00122  Multiple exostoses
Reference
PMID:8981950
  Authors
Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D
  Title
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.
  Journal
Am J Hum Genet 60:80-6 (1997)
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