KEGG   VARIANT: 2936v1
Entry
2936v1                      Variant                                
Name
GSR deficiency
Type
Loss of function
Gene
GSR  glutathione-disulfide reductase [KO:K00383]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138300
Network
nt06026  Glutathione biosynthesis
Disease
H00668  Anemia due to disorders of glutathione metabolism
Reference
PMID:17185460
  Authors
Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D
  Title
Molecular basis of glutathione reductase deficiency in human blood cells.
  Journal
Blood 109:3560-6 (2007)
DOI:10.1182/blood-2006-08-042531
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