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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1H

Variant:p.E718G

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CACNA1H

NM_021098.3:p.E718G

hg38:chr16:1204160 A>G

Associated Papers

Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.

Eckle VS et al.

The Journal of Physiology, 2014

24277868 (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."