KEGG   VARIANT: 11041v1
Entry
11041v1                      Variant                               
Name
B4GAT1 deficiency
Gene
B4GAT1  beta-1,4-glucuronyltransferase 1 [KO:K21032]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605517
Network
nt06013  O-Glycan biosynthesis
Disease
H00120  Muscular dystrophy-dystroglycanopathy type A
Reference
PMID:23877401
  Authors
Shaheen R, Faqeih E, Ansari S, Alkuraya FS
  Title
A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.
  Journal
Neurogenetics 14:243-5 (2013)
DOI:10.1007/s10048-013-0367-8
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