Varaico: Literature-Extracted Genetic Variants

Gene:KCNT2
Variant:p.R190C
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KCNT2

NM_198503.5:p.R190C

Associated Papers

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.

Jackson A et al.

American Journal of Medical Genetics. Part A, 2021

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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."