Varaico: Literature-Extracted Genetic Variants

Gene:CACNB2
Variant:p.G167S
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CACNB2

NM_201596.3:p.G167S

Associated Papers

A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.

Graziano C et al.

Journal of Autism and Developmental Disorders, 2021

Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.

Liao X et al.

Molecular Brain, 2020

Autism-associated mutations in the CaVβ2 calcium-channel subunit increase Ba2+-currents and lead to differential modulation by the RGK-protein Gem.

Despang P et al.

Neurobiology of Disease, 2020

Autism throughout genetics: Perusal of the implication of ion channels.

Daghsni M et al.

Brain and Behavior, 2018

Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders.

Heyes S et al.

Progress in Neurobiology, 2015

Rare mutations of CACNB2 found in autism spectrum disease-affected families alter calcium channel function.

Breitenkamp AF et al.

Plos One, 2014

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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."