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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1H

Variant:p.Y457S

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CACNA1H

NM_021098.3:p.Y457S

hg38:chr16:1201820 A>C

Associated Papers

Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.

Scholl UI et al.

Elife, 2015

25907736 (PubMed )

Supplement: elife06315s004.docx

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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."