KEGG   VARIANT: 4891v1
Entry
4891v1                      Variant                                
Name
SLC11A2 mutation
Type
Loss of function
Gene
SLC11A2  solute carrier family 11 member 2 [KO:K21398]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600523
Network
nt06525  Ferroptosis
Disease
H01196  Hypochromic microcytic anemia
Reference
PMID:16439678
  Authors
Beaumont C, Delaunay J, Hetet G, Grandchamp B, de Montalembert M, Tchernia G
  Title
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.
  Journal
Blood 107:4168-70 (2006)
DOI:10.1182/blood-2005-10-4269
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