Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.G330V
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CLCN5

NM_001127898.4:p.G330V

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

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

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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."