Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G282D
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CLCN5

NM_001127898.4:p.G282D

Associated Papers

Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.

Liu Y et al.

Pediatric Nephrology (berlin, Germany), 2023

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.

Huang L et al.

Molecular Genetics and Genomics : Mgg, 2022

35612621 (PubMed )
Supplement: 438_2022_1897_MOESM1_ESM.pdf

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

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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."