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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.I1389_N1392del0

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SCN1A

NM_006920.6:p.I1389_N1392del0

hg38:chr2:166002547 ATTTCTTTCT>A

Associated Papers

Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.

Türkyılmaz A et al.

Molecular Syndromology, 2022

36158059 (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."