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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN1A

Variant:p.E1183delFs

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SCN1A

NM_001165963.4:p.E1183delFs

hg38:chr2:166015609 TC>T

Associated Papers

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.

Yang X et al.

Scientific Reports, 2017

29142202 (PubMed )

Supplement: 41598_2017_15814_MOESM1_ESM.pdf

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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."