KEGG   VARIANT: 875v1
Entry
875v1                      Variant                                 
Name
CBS deficiency
Type
Loss of function
Gene
CBS  cystathionine beta-synthase [KO:K01697]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613381
Network
nt06030  Methionine metabolism
Disease
H00183  Homocystinuria
Reference
PMID:7506602
  Authors
Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE
  Title
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
  Journal
Hum Mol Genet 2:1857-60 (1993)
DOI:10.1093/hmg/2.11.1857
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