Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.G129fs
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PTEN

NM_000314.8:p.G129fs

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_S1
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