KEGG   VARIANT: 6559v1
Entry
6559v1                      Variant                                
Name
SLC12A3 mutation
Type
Loss of function
Gene
SLC12A3  solute carrier family 12 member 3 [KO:K14426]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600968
Network
nt06325  Hormone/cytokine signaling
Disease
H00240  Gitelman syndrome
Reference
PMID:22009145
  Authors
Glaudemans B, Yntema HG, San-Cristobal P, Schoots J, Pfundt R, Kamsteeg EJ, Bindels RJ, Knoers NV, Hoenderop JG, Hoefsloot LH
  Title
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
  Journal
Eur J Hum Genet 20:263-70 (2012)
DOI:10.1038/ejhg.2011.189
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