Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1C
Variant:p.F1166S
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CACNA1C

NM_199460.4:p.F1166S

Associated Papers

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.

Wemhöner K et al.

Journal of Molecular and Cellular Cardiology, 2015

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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."