Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.F273L
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CLCN5

NM_000084.5:p.F273L

Associated Papers

Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.

Sakhi I et al.

Human Mutation, 2021

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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."