Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R467*
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CLCN5

NM_000084.5:p.R467*

Associated Papers

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

Li Q et al.

Renal Failure, 2024

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

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.

Gianesello L et al.

Human Genetics, 2021

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.

Ye Q et al.

Clinical Genetics, 2020

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.

Ranawaka R et al.

Bmc Research Notes, 2017

[Clinical and genetic analysis of Dent disease in 4 Chinese children].

Jian S et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

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."