VARIANT: 27232v1
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Entry
27232v1 Variant
Name
GNMT deficiency
Gene
GNMT
glycine N-methyltransferase [KO:
K00552
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
606628
Network
nt06030
Methionine metabolism
Disease
H00184
Hypermethioninemia
Reference
PMID:
11810299
Authors
Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C
Title
Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.
Journal
Hum Genet 110:68-74 (2002)
DOI:
10.1007/s00439-001-0648-4
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