Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A1
Variant:p.G319R
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SLC12A1

NM_000338.3:p.G319R

Associated Papers

Genetic heterogeneity in patients with Bartter syndrome type 1.

Sun M et al.

Molecular Medicine Reports, 2017

Na+-K+-2Cl- cotransporter type 2 trafficking and activity: the role of interacting proteins.

Carmosino M et al.

Biology of the Cell, 2012

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009

Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter.

Starremans PG et al.

Journal of the American Society of Nephrology : Jasn, 2003

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transporters.

Starremans PG et al.

Journal of the American Society of Nephrology : Jasn, 2003

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

Vargas-Poussou R et al.

American Journal of Human Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."