Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.L394R
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CLCN5

NM_001127898.4:p.L394R

Associated Papers

Clinical features and genetic analysis of 15 Chinese children with dent disease.

Li Q et al.

Renal Failure, 2024

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M et al.

Pediatric Nephrology (berlin, Germany), 2006

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

Ludwig M et al.

Human Genetics, 2005

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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."