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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNT1

Variant:p.D401H

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KCNT1

NM_020822.3:p.D401H

hg38:chr9:135765624 G>C

Associated Papers

HCN1 Gain-Of-Function Mutations - A New Cause of Epileptic Encephalopathy.

Poduri A

Epilepsy Currents, 0

25678871 (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."