Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R476C
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CLCN5

NM_001127898.4:p.R476C

Associated Papers

Novel OCRL mutations in patients with Dent-2 disease.

Böckenhauer D et al.

Journal of Pediatric Genetics, 2012

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Utsch B et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 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."