Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.P521S
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CLCN5

NM_001127898.4:p.P521S

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.

Rusu EE et al.

Genes, 2025

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease.

Mura-Escorche G et al.

Biomedicines, 2023

38002082 (PubMed )
Supplement: biomedicines-11-03082-s001.zip › biomedicines-2665667-supplementary.pdf
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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."