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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLDN10

Variant:p.Y192del1

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CLDN10

NM_006984.5:p.Y192del1

hg38:chr13:95577900 ATAC>A

Associated Papers

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

Bongers EMHF et al.

Journal of the American Society of Nephrology : Jasn, 2017

28674042 (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."