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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCN4A

Variant:p.R756H

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SCN4A

NM_000334.4:p.R756H

hg38:chr17:63957271 C>T

Associated Papers

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

Stagnaro M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

29396171 (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."