Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.L200R
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CLCN5

NM_000084.5:p.L200R

Associated Papers

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.

Grand T et al.

Kidney International, 2009

Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Ludwig M et al.

Human Genetics, 2005

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

Wu F et al.

Kidney International, 2003

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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."