Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.R1629H
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SCN8A

NM_001330260.2:p.R1629H

Associated Papers

Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.

Dong R et al.

Journal of Human Genetics, 2024

An Investigation of the Immune Microenvironment and Genome during Lung Adenocarcinoma Development.

Wang Q et al.

Journal of Cancer, 2024

38370388 (PubMed )
Supplement: jcav15p1687s1.zip › Supplementary_Materials › Clinical_and_Genomic_Data.xlsx › Gene_mutation

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.

Lyu H et al.

Ebiomedicine, 2023

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.

Zeng Q et al.

Frontiers in Molecular Neuroscience, 2022

SCN2A channelopathies: Mechanisms and models.

Hedrich UBS et al.

Epilepsia, 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."