Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K1409N
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SCN1A

NM_001165963.4:p.K1409N

Associated Papers

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.

Xie Y et al.

Neurobiology of Disease, 2020

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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."