KEGG   VARIANT: 1646v1
Entry
1646v1                      Variant                                
Name
AKR1C2 mutation
Type
Loss of function
Gene
AKR1C2  aldo-keto reductase family 1 member C2 [KO:K00089]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600450
Network
nt06019  Steroid hormone biosynthesis
Disease
H00607  46,XY gonadal dysgenesis
Reference
PMID:21802064
  Authors
Fluck CE, Meyer-Boni M, Pandey AV, Kempna P, Miller WL, Schoenle EJ, Biason-Lauber A
  Title
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
  Journal
Am J Hum Genet 89:201-18 (2011)
DOI:10.1016/j.ajhg.2011.06.009
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