Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.A934S
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KCNT1

NM_020822.3:p.A934S

Associated Papers

Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.

Hinckley CA et al.

Epilepsia, 2023

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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."