Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R659delFs
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CLCN5

NM_001127898.4:p.R659delFs

Associated Papers

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

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.

Yamamoto K et al.

Journal of the American Society of Nephrology : Jasn, 2000

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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."