KEGG   VARIANT: 1757v1
Entry
1757v1                      Variant                                
Name
SARDH deficiency
Gene
SARDH  sarcosine dehydrogenase [KO:K00314]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604455
Network
nt06033  Glycine, serine and arginine metabolism
nt06038  Folate metabolism
Disease
H02657  Sarcosinemia
Reference
PMID:22825317
  Authors
Bar-joseph I, Pras E, Reznik-Wolf H, Marek-Yagel D, Abu-Horvitz A, Dushnitzky M, Goldstein N, Rienstein S, Dekel M, Pode-Shakked B, Zlotnik J, Benarrosh A, Gillery P, Hofliger N, Auray-Blais C, Garnotel R, Anikster Y
  Title
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
  Journal
Hum Genet 131:1805-10 (2012)
DOI:10.1007/s00439-012-1207-x
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