Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.H648Y
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CLCN5

NM_001127898.4:p.H648Y

Associated Papers

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

Che R et al.

Journal of Biomedical Research, 2025

40420588 (PubMed )
Supplement: jbr-39-4-356-Supplementary.pdf

New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.

Chen Y et al.

Molecular Genetics & Genomic Medicine, 2023

37248651 (PubMed )
Supplement: MGG3-11-e2163-s001.xls › Table_S1

The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.

Zhu X et al.

Frontiers in Medicine, 2022

Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial.

Blanchard A et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008

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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."