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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.I1346N

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SCN2A

NM_001040142.2:p.I1346N

hg38:chr2:165374749 T>A

Associated Papers

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Balestrini S et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2021

33903184 (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."