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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAK3

Variant:p.K389Q

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PAK3

NM_002578.5:p.K389Q

hg38:chrX:111195896 A>C

Associated Papers

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

Gambardella A et al.

Epilepsia Open, 2025

39806575 (PubMed )

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