Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G582Splc
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CLCN5

NM_001127898.4:p.G582Splc

Associated Papers

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

Arnous MG et al.

Kidney International Reports, 2023

37284679 (PubMed )
Supplement: mmc1.pdf

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Pode-Shakked B et al.

Pediatric Nephrology (berlin, Germany), 2022

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
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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."