Varaico: Literature-Extracted Genetic Variants

Gene:PAK3
Variant:p.S447F
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PAK3

NM_002578.5:p.S447F

Associated Papers

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

Pascolini G et al.

Journal of Molecular Neuroscience : Mn, 2021

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Qian Y et al.

Bmc Medical Genetics, 2020

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.

Iida A et al.

Cold Spring Harbor Molecular Case Studies, 2019

31444167 (PubMed )
Supplement: supp_mcs.a003988_Supplemental_Table_3.xlsx › supplement
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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."