Varaico: Literature-Extracted Genetic Variants

Gene:ABCC2
Variant:p.M438R
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ABCC2

NM_000392.5:p.M438R

Associated Papers

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.

Mao X et al.

Frontiers in Cellular Neuroscience, 2020

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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."