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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN2A

Variant:p.A30delFs

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SCN2A

NM_001040142.2:p.A30delFs

hg38:chr2:165295910 TG>T

Associated Papers

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders.

Berg AT et al.

Brain : a Journal of Neurology, 2024

38651838 (PubMed )

Supplement: awae125_supplementary_data.zip › brain-2023-02643-File011.xlsx › Sheet1

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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."