Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.D251N
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PPP2R5D

NM_006245.4:p.D251N

Associated Papers

Early-onset Parkinsonism and cognitive delay: think about PPP2R5D.

Cascino S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

L'Erario FF et al.

Genes, 2025

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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."