KEGG   VARIANT: 2132v1
Entry
2132v1                      Variant                                
Name
EXT2 mutation
Gene
EXT2  exostosin glycosyltransferase 2 [KO:K02367]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608210
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H00122  Multiple exostoses
Reference
PMID:30288735
  Authors
Gentile M, Agolini E, Cocciadiferro D, Ficarella R, Ponzi E, Bellacchio E, Antonucci MF, Novelli A
  Title
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
  Journal
Clin Genet 95:165-171 (2019)
DOI:10.1111/cge.13458
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