Varaico: Literature-Extracted Genetic Variants

Gene:CACNG2
Variant:p.V143L
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CACNG2

NM_006078.5:p.V143L

Associated Papers

Exploring the impact of the stargazin V143L mutation on the dynamics of the AMPA receptor: stargazin complex.

Gouveia RP et al.

Frontiers in Cellular Neuroscience, 2024

Aberrant hippocampal transmission and behavior in mice with a stargazin mutation linked to intellectual disability.

Caldeira GL et al.

Molecular Psychiatry, 2022

Increased Ca2+ signaling in NRXN1α+/- neurons derived from ASD induced pluripotent stem cells.

Avazzadeh S et al.

Molecular Autism, 2019

SYNGAP1: Mind the Gap.

Jeyabalan N et al.

Frontiers in Cellular Neuroscience, 2016

Glutamate receptor mutations in psychiatric and neurodevelopmental disorders.

Soto D et al.

Communicative & Integrative Biology, 2014

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

Hamdan FF et al.

American Journal of Human Genetics, 2011

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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."