Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.S1753A
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SCN8A

NM_001330260.2:p.S1753A

Associated Papers

Genetic diagnosis of neonatal-onset seizures.

Ma X et al.

Genes & Diseases, 2019

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Jiao Q et al.

Clinical Genetics, 2019

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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."