Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G540R
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CLCN5

NM_001127898.4:p.G540R

Associated Papers

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

Li Q et al.

Renal Failure, 2024

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

Phenotypic variability of Dent disease in a large New Zealand kindred.

Wong W et al.

Pediatric Nephrology (berlin, Germany), 2017

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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."