Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.A192T
Back to variants list

KCNB1

NM_004975.4:p.A192T

Associated Papers

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.

Hiraide T et al.

Journal of Human Genetics, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."