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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.L1649Q

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SCN2A

NM_001040142.2:p.L1649Q

hg38:chr2:165388752 T>A

Associated Papers

Sodium channelopathies of skeletal muscle and brain.

Mantegazza M et al.

Physiological Reviews, 2021

33769100 (PubMed )

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 2021

35002916 (PubMed )

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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."