Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.H357Q
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CLCNKA

NM_004070.4:p.H357Q

Associated Papers

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Zhao J et al.

Scientific Reports, 2022

36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › RawData

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

In silico model of the human ClC-Kb chloride channel: pore mapping, biostructural pathology and drug screening.

Louet M et al.

Scientific Reports, 2017

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Andrini O et al.

American Journal of Physiology. Renal Physiology, 2015

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M et al.

Journal of the American Society of Nephrology : Jasn, 2000

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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."