Varaico: Literature-Extracted Genetic Variants

Gene:SCN11A
Variant:p.F1204L
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SCN11A

NM_001349253.2:p.F1204L

Associated Papers

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum.

Bechi G et al.

Neurobiology of Disease, 2015

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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."