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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CPOX

Variant:p.V47I

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CPOX

NM_000097.7:p.V47I

hg38:chr3:98593366 C>T

Associated Papers

Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts.

Vaisbich MH et al.

Nephron, 2023

36882007 (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."