Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.N468S
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KCNB1

NM_004975.4:p.N468S

Associated Papers

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.

Miceli F et al.

Frontiers in Physiology, 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."