|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Interleukin 18 function in atherosclerosis is mediated by the interleukin 18 receptor and the Na-Cl co-transporter.
|
26099046 |
2015 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.
|
25140267 |
2014 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Renal phosphate handling in Gitelman syndrome--the results of a case-control study.
|
22990302 |
2013 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
SIRT1, heme oxygenase-1 and NO-mediated vasodilation in a human model of endogenous angiotensin II type 1 receptor antagonism: implications for hypertension.
|
23698802 |
2013 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
|
22009145 |
2012 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical utility gene card for: Gitelman syndrome.
|
21343949 |
2011 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Phenotype-genotype correlation and follow-up in adult patients with hypokalaemia of renal origin suggesting Gitelman syndrome.
|
21753071 |
2011 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical and analytical findings in Gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation.
|
19420906 |
2009 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
|
18391953 |
2008 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A thiazide test for the diagnosis of renal tubular hypokalemic disorders.
|
17699451 |
2007 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in the SLC12A3 gene causing Gitelman's syndrome in Swedes.
|
17654016 |
2007 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
|
17329572 |
2007 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel genotypes of the thiazide-sensitive Na-Cl cotransporter (SLC12A3) gene in patients with Gitelman's syndrome.
|
17873326 |
2007 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation of the thiazide-sensitive sodium chloride cotransporter gene in a Japanese family with Gitelman syndrome.
|
16429844 |
2006 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Phenotype and genotype analysis in Chinese patients with Gitelman's syndrome.
|
15687331 |
2005 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
|
15069170 |
2004 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
|
12112667 |
2002 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
|
12008755 |
2002 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
|
12112667 |
2002 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
|
11940055 |
2002 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life.
|
11168953 |
2001 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Abnormalities of Gq-mediated cell signaling in Bartter and Gitelman syndromes.
|
11532083 |
2001 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome.
|
10616841 |
2000 |
|
rs147901432
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic variants of thiazide-sensitive NaCl-cotransporter in Gitelman's syndrome and primary hypertension.
|
10988270 |
2000 |
|
rs147901432
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
|
9734597 |
1998 |