Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.D427A
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KCNMA1

NM_001161352.2:p.D427A

Associated Papers

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.

Li X et al.

European Journal of Human Genetics : Ejhg, 2018

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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."