Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1B
Variant:p.R183H
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PPP2R1B

NM_002716.5:p.R183H

Associated Papers

Research progress of the relationship between phosphoprotein phosphatases (PPPs) and neurodevelopmental disorders.

Ji W et al.

Clinical Genetics, 2024

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Baker EK et al.

American Journal of Medical Genetics. Part A, 2022

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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."