Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.S203L
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CLCN5

NM_000084.5:p.S203L

Associated Papers

The Site and Type of CLCN5 Genetic Variation Impact the Resulting Dent Disease-1 Phenotype.

Arnous MG et al.

Kidney International Reports, 2023

37284679 (PubMed )
Supplement: mmc1.pdf

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

Minamikawa S et al.

Journal of Human Genetics, 2018

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."