Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R104*
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CLCN5

NM_001127898.4:p.R104*

Associated Papers

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review.

Mao Y et al.

The Journal of International Medical Research, 2024

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

Arnous MG et al.

Kidney International Reports, 2023

Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

Priante G et al.

International Journal of Molecular Sciences, 2023

A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.

Mollataheri A et al.

Nephron, 2023

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

Gianesello L et al.

Human Genetics, 2021

32860533 (PubMed )
Supplement: 439_2020_2219_MOESM1_ESM.docx

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports.

Wen M et al.

Frontiers in Medicine, 2018

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M et al.

Pediatric Nephrology (berlin, Germany), 2006

Phenotypic and genetic heterogeneity in Dent's disease--the results of an Italian collaborative study.

Tosetto E et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006

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."