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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNT1

Variant:p.E893V

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KCNT1

NM_020822.3:p.E893V

hg38:chr9:135778771 A>T

Associated Papers

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

34114611 (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."