Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.L470R
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PAK1

NM_002576.5:p.L470R

Associated Papers

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

Blek N et al.

International Journal of Molecular Sciences, 2025

The molecular basis of p21-activated kinase-associated neurodevelopmental disorders: From genotype to phenotype.

Dobrigna M et al.

Frontiers in Neuroscience, 2023

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn S et al.

Brain : a Journal of Neurology, 2019

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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."