Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1A
Variant:p.Q217R
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PPP2R1A

NM_014225.6:p.Q217R

Associated Papers

Clinical and Molecular Spectrum of PPP2R1A-Related Neurodevelopmental Disorders: A Systematic Review.

Lee J et al.

Genes, 2025

Houge-Janssens syndrome.

Houge GD et al.

European Journal of Human Genetics : Ejhg, 2025

A structurally informed human protein-protein interactome reveals proteome-wide perturbations caused by disease mutations.

Xiong D et al.

Nature Biotechnology, 2025

PPP2R1A-Related Neurodevelopmental Disorder: The First Korean Case with a Novel Variant of PPP2R1A and Literature Review.

Lee J et al.

Annals of Clinical and Laboratory Science, 2023

Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Ghezelayagh TS et al.

Cancer Research Communications, 2022

36311816 (PubMed )
Supplement: crc-22-0314-s02.xlsx › Table_S6_List_of_mutations
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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."