Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.K1846fs
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SCN1A

NM_001165963.4:p.K1846fs

Associated Papers

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome.

Lee HF et al.

Brain & Development, 2015

The SCN1A gene variants and epileptic encephalopathies.

Parihar R et al.

Journal of Human Genetics, 2013

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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."