Varaico: Literature-Extracted Genetic Variants

Gene:CACNA1A
Variant:p.G266S
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CACNA1A

NM_001127222.2:p.G266S

Associated Papers

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.

Hammer MF et al.

Plos One, 2017

28686619 (PubMed )
Supplement: pone.0180485.s008.xlsx › Sheet1

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.

Ohmori I et al.

Neurobiology of Disease, 2013

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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."