KEGG   VARIANT: 79868v1
Entry
79868v1                      Variant                               
Name
ALG13 deficiency
Type
Loss of function
Gene
ALG13  ALG13 UDP-N-acetylglucosaminyltransferase subunit [KO:K07432]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300776
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:25732998
  Authors
Smith-Packard B, Myers SM, Williams MS
  Title
Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing.
  Journal
JIMD Rep 22:95-8 (2015)
DOI:10.1007/8904_2015_416
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