Varaico: Literature-Extracted Genetic Variants

Gene:PPP2CA
Variant:p.F146fs
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PPP2CA

NM_002715.4:p.F146fs

Associated Papers

Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.

Verbinnen I et al.

Biochemical Society Transactions, 2021

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Reynhout S et al.

American Journal of Human Genetics, 2019

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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."