2024
DOI: 10.1186/s13023-024-03507-0
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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Silvia Castiglioni,
Laura Pezzoli,
Lidia Pezzani
et al.

Abstract: Background the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain. Results through whole exome sequencing, we found two de novo variants in PPP3CA: a frameshift variant predicted leading to a trun… Show more

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