Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.Y272C
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CLCN5

NM_000084.5:p.Y272C

Associated Papers

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.

Ye Q et al.

Clinical Genetics, 2020

[Clinical and genetic analysis of Dent disease in 4 Chinese children].

Jian S et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015

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."