Varaico: Literature-Extracted Genetic Variants

Gene:SLC12A3
Variant:p.N442S
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SLC12A3

NM_001126108.2:p.N442S

Associated Papers

Cryo-EM structure of the human sodium-chloride cotransporter NCC.

Nan J et al.

Science Advances, 2022

36351028 (PubMed )
Supplement: sciadv.add7176_sm.pdf

Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations.

Zhang JH et al.

Biomed Research International, 2021

Gitelman's Syndrome: characterization of a novel c.1181G>A point mutation and functional classification of the known mutations.

Ravarotto V et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2018

Analysis of mutations of two Gitelman syndrome family SLC12A3 genes and proposed treatments using Chinese medicine.

Luo JW et al.

Chinese Journal of Integrative Medicine, 2017

New SLC12A3 disease causative mutation of Gitelman's syndrome.

Grillone T et al.

World Journal of Nephrology, 2016

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.

Glaudemans B et al.

European Journal of Human Genetics : Ejhg, 2012

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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."