Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1A
Variant:p.S219P
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PPP2R1A

NM_014225.6:p.S219P

Associated Papers

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

Lee J et al.

Genes, 2025

A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2.

Zarante-Bahamon AM et al.

Clinical Dysmorphology, 2025

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1
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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."