Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.W369R
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KCNB1

NM_004975.4:p.W369R

Associated Papers

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

Bar C et al.

Epilepsy & Behavior : E&b, 2022

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

Veale EL et al.

Frontiers in Pharmacology, 2022

The association between gene polymorphisms in voltage-gated potassium channels Kv2.1 and Kv4.2 and susceptibility to autism spectrum disorder.

Liu Z et al.

Frontiers in Psychiatry, 2022

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C et al.

Human Mutation, 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."