Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R933H
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KCNT1

NM_020822.3:p.R933H

Associated Papers

KCNT1 gene variant-associated epilepsy: genetic insights, functional mechanisms, and emerging therapies.

Duan YZ et al.

Journal of Neurology, 2025

Insights from stereoelectroencephalography in KCNT1-related focal epilepsy suggest a multifocal and migrating epileptogenic network.

Gokce-Samar Z et al.

Epilepsia, 2025

Epilepsy of infancy with migrating focal seizures due to a novel homozygous mutation in KCNT1 gene: A case report.

James J et al.

Seizure, 2023

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Diefenbach RJ et al.

Cancers, 2019

31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2
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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."