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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCN5

Variant:p.I612insFs

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CLCN5

NM_000084.5:p.I612insFs

hg38:chrX:50090415 A>AG

Associated Papers

Hypercalciuria in patients with CLCN5 mutations.

Ludwig M et al.

Pediatric Nephrology (berlin, Germany), 2006

16807762 (PubMed )

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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."