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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.F1756_Y1759del4

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SCN2A

NM_001040142.2:p.F1756_Y1759del4

hg38:chr2:165389071 TTTTGTCAGTTAC>T

Associated Papers

Genotype-phenotype correlation on 45 individuals with West syndrome.

Krey I et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2020

31791873 (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."