Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R5B
Variant:p.E200K
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PPP2R5B

NM_006244.4:p.E200K

Associated Papers

Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.

Oyama N et al.

Journal of Medical Genetics, 2023

Quantitative proteomics and phosphoproteomics of PPP2R5D variants reveal deregulation of RPS6 phosphorylation through converging signaling cascades.

Ka S et al.

Biorxiv : the Preprint Server for Biology, 2023

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Vaneynde P et al.

Frontiers in Cell and Developmental Biology, 2022

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."