Varaico: Literature-Extracted Genetic Variants

Gene:PDE2A
Variant:p.F505S
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PDE2A

NM_002599.5:p.F505S

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability.

Yousaf H et al.

Clinical Genetics, 2023

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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."