Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R933C
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KCNT1

NM_020822.3:p.R933C

Associated Papers

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.

Yang Y et al.

Frontiers in Neurology, 2024

Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1.

Lu J et al.

Translational Neuroscience, 2022

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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."