Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5C
Variant:p.E200K
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PPP2R5C

NM_001161725.2:p.E200K

Associated Papers

A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizures.

Muir AM et al.

Hgg Advances, 2025

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

Verbinnen I et al.

Biochemical Society Transactions, 2021

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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."