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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSPYL1

Variant:p.V176Fs

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TSPYL1

NM_003309.4:p.V176Fs

hg38:chr6:116279304 A>AC

Associated Papers

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK et al.

Plos One, 2012

22848613 (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."