Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5D
Variant:p.E200G
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PPP2R5D

NM_006245.4:p.E200G

Associated Papers

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

40282429 (PubMed )
Supplement: genes-16-00469-s001.zip › genes-3567155-supplementary.xlsx › Table_S2
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