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Entry
N00665                      Network                                

Name
ALG13 deficiency in N-glycan precursor biosynthesis
Definition
P-Dol -- ALG7 >> ALG13*
  Expanded
C00110 -- 1798 >> 79868v1
Class
nt06015 N-Glycan biosynthesis
Type
Variant
Pathway
hsa00510  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Gene
1798  ALG7; dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
79868  ALG13; UDP-N-acetylglucosaminyltransferase subunit
Variant
79868v1  ALG13 deficiency
Metabolite
C00110  Dolichyl phosphate
Reference
  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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