Varaico: Literature-Extracted Genetic Variants

Gene:PDE2A
Variant:p.P149L
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PDE2A

NM_002599.5:p.P149L

Associated Papers

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

Yousaf H et al.

Clinical Genetics, 2023

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia.

Doummar D et al.

European Journal of Human Genetics : Ejhg, 2020

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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."