Varaico: Literature-Extracted Genetic Variants

Gene:KCNT2
Variant:p.G362R
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KCNT2

NM_198503.5:p.G362R

Associated Papers

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Cui F et al.

Frontiers in Genetics, 2024

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Cioclu MC et al.

Annals of Neurology, 2023

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Nassir N et al.

Human Genomics, 2021

34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
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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."