Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.T1100_A1101insFs
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SCN5A

NM_000335.5:p.T1100_A1101insFs

Associated Papers

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L et al.

American Journal of Human Genetics, 2001

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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."