Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.Q615_Q616Splc
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CLCNKB

NM_000085.5:p.Q615_Q616Splc

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

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Wan ER et al.

Kidney International Reports, 2023

36938092 (PubMed )
Supplement: mmc1.pdf

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.

Umene R et al.

Cen Case Reports, 2020

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

Nozu K et al.

Journal of Medical Genetics, 2008

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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."