Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.C498delFs
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OCRL

NM_000276.4:p.C498delFs

Associated Papers

Identification of a novel mutation in the CLCN5 gene in a Chinese family with Dent-1 disease.

Zhang H et al.

Nephrology (carlton, Vic.), 2014

Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.

Dinour D et al.

Nephron. Clinical Practice, 2009

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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."