Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.Q318H
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KCNB1

NM_004975.4:p.Q318H

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.

Veale EL et al.

Frontiers in Pharmacology, 2022

Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.

Xiong J et al.

Frontiers in Pediatrics, 2021

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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."