Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R586W
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CLCN5

NM_001127898.4:p.R586W

Associated Papers

Unprecedented coexistence of Dent's disease type 1 and Wilson's disease in a two-year-old Chinese boy: implications for precision medicine.

Mao Q et al.

Bmc Nephrology, 2025

Phenotype and genotype analyses of 21 Chinese patients with Dent disease.

Che R et al.

Journal of Biomedical Research, 2025

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

Li Q et al.

Renal Failure, 2024

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.

Smith AJ et al.

American Journal of Physiology. Renal Physiology, 2009

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.

Wu F et al.

Nephron. Physiology, 2009

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

Modeling study of human renal chloride channel (hCLC-5) mutations suggests a structural-functional relationship.

Wu F et al.

Kidney International, 2003

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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."