KEGG   VARIANT: 55624v1
Entry
55624v1                      Variant                               
Name
POMGNT1 deficiency
Gene
POMGNT1  protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [KO:K09666]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606822
Network
nt06013  O-Glycan biosynthesis
Disease
H02307  Muscular dystrophy-dystroglycanopathy
Reference
  Authors
Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T
  Title
Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.
  Journal
Hum Mol Genet 12:527-34 (2003)
DOI:10.1093/hmg/ddg043
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