Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.Y380S
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KCNB1

NM_004975.4:p.Y380S

Associated Papers

A novel loss-of-function KCNB1 gene variant in a twin with global developmental delay and seizures.

Manville RW et al.

Frontiers in Cellular Neuroscience, 2024

Multiple residues specify external tetraethylammonium blockade in voltage-gated potassium channels.

Pascual JM et al.

Biophysical Journal, 1995

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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."