Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R43Q
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KCNA2

NM_004974.4:p.R43Q

Associated Papers

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.

Guerrini R et al.

Physiological Reviews, 2023

Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.

Krenn M et al.

Journal of Medical Genetics, 2020

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

Maljevic S et al.

Journal of Neurochemistry, 2017

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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."