Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.L278L
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CLCN5

NM_001127898.4:p.L278L

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

38002082 (PubMed )
Supplement: biomedicines-11-03082-s001.zip › biomedicines-2665667-supplementary.pdf

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

Lourdel S et al.

Pflugers Archiv : European Journal of Physiology, 2012

Heterogeneity in the processing of CLCN5 mutants related to Dent disease.

Grand T et al.

Human Mutation, 2011

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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."