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C. Manzitti

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Open access Jul 2026

Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity.

Findings supported the classification of the TP53 germline variant c.671A>C (p.E224A) as likely pathogenic, providing a definitive molecular diagnosis for family counselling and sheds light on how certain predicted TP53 missense variants can be linked to disease mechanisms through RNA splicing disruption.

I. Velkova, Serena Cappato, Daniela Rivera et al. · Scientific Reports · 0 citations