Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.S314S
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CLCN5

NM_001127898.4:p.S314S

Associated Papers

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

Ramos-Trujillo E et al.

Journal of Human Genetics, 2007

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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."