KEGG   VARIANT: 4522v1
Entry
4522v1                      Variant                                
Name
MTHFD1 deficiency
Type
Loss of function
Gene
MTHFD1  methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [KO:K00288]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 172460
Network
nt06038  Folate metabolism
Disease
H00262  Neural tube defects, folate-sensitive
Reference
PMID:16315005
  Authors
De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
  Title
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
  Journal
J Hum Genet 51:98-103 (2006)
DOI:10.1007/s10038-005-0329-6
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