Varaico: Literature-Extracted Genetic Variants

Gene:PAK3
Variant:p.C371Y
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PAK3

NM_002578.5:p.C371Y

Associated Papers

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

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

Qian Y et al.

Bmc Medical Genetics, 2020

Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Gotoh O et al.

Nature Communications, 2019

31672974 (PubMed )
Supplement: 41467_2019_12985_MOESM8_ESM.xlsx › Suppl_Data_5
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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."