Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R28*
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CLCN5

NM_000084.5:p.R28*

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

Identification of co-occurrence in a patient with Dent's disease and ADA2-deficiency by exome sequencing.

Günthner R et al.

Gene, 2018

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

Li F et al.

The Journal of Pediatrics, 2016

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M et al.

Pediatric Nephrology (berlin, Germany), 2006

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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."