Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKB
Variant:p.S573Y
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CLCNKB

NM_000085.5:p.S573Y

Associated Papers

A novel mutation associated with Type III Bartter syndrome: A report of five cases.

Li Y et al.

Molecular Medicine Reports, 2019

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

[Gene mutation analysis and prenatal diagnosis of a family with Bartter syndrome].

Li L et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

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."