Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.W547G
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CLCN5

NM_000084.5:p.W547G

Associated Papers

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

Mura-Escorche G et al.

Biomedicines, 2023

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Mansour-Hendili L et al.

Human Mutation, 2015

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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."