Varaico: Literature-Extracted Genetic Variants

Gene:PAK3
Variant:p.G424R
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PAK3

NM_002578.5:p.G424R

Associated Papers

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Dobrigna M et al.

Neurobiology of Disease, 2025

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

Gambardella A et al.

Epilepsia Open, 2025

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Pascolini G et al.

Journal of Molecular Neuroscience : Mn, 2021

Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities.

Liaci C et al.

International Journal of Molecular Sciences, 2021

PAK3 mutations responsible for severe intellectual disability and callosal agenesis inhibit cell migration.

Duarte K et al.

Neurobiology of Disease, 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."