Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R1626L
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SCN8A

NM_001330260.2:p.R1626L

Associated Papers

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.

Türkyılmaz A et al.

Neurogenetics, 2024

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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."