KEGG   VARIANT: 5373v1
Entry
5373v1                      Variant                                
Name
PMM2 deficiency
Type
Loss of function
Gene
PMM2  phosphomannomutase 2 [KO:K17497]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601785
Network
nt06015  N-Glycan biosynthesis
Disease
H00118  Congenital disorders of glycosylation type I
Reference
PMID:28425223
  Authors
Vals MA, Morava E, Teeaar K, Zordania R, Pajusalu S, Lefeber DJ, Ounap K
  Title
Three families with mild PMM2-CDG and normal cognitive development.
  Journal
Am J Med Genet A 173:1620-1624 (2017)
DOI:10.1002/ajmg.a.38235
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