KEGG   VARIANT: 275v1
Entry
275v1                      Variant                                 
Name
AMT deficiency
Type
Loss of function
Gene
AMT  aminomethyltransferase [KO:K00605]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 238310
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H00191  Nonketotic hyperglycinemia
Reference
  Authors
Toone JR, Applegarth DA, Coulter-Mackie MB, James ER
  Title
Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.
  Journal
Mol Genet Metab 70:116-21 (2000)
DOI:10.1006/mgme.2000.3000
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