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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNT2

Variant:p.R47K

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KCNT2

NM_198503.5:p.R47K

hg38:chr1:196492297 C>T

Associated Papers

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

Cioclu MC et al.

Annals of Neurology, 2023

37062836 (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."