Varaico: Literature-Extracted Genetic Variants

Gene:KCND2
Variant:p.V404L
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KCND2

NM_012281.3:p.V404L

Associated Papers

Voltage-gated potassium channels and genetic epilepsy.

Zheng Y et al.

Frontiers in Neurology, 2024

Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients.

Bavan S et al.

Human Mutation, 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

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Zhang Y et al.

Human Molecular Genetics, 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."