Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.W80C
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CLCNKA

NM_004070.4:p.W80C

Associated Papers

Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.

Yun Y et al.

International Journal of Molecular Sciences, 2023

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation.

Cappola TP et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Salt wasting and deafness resulting from mutations in two chloride channels.

Schlingmann KP et al.

The New England Journal of Medicine, 2004

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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."