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Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.

Caterina Ancora, Marco Marchi,Claudia Maria Bonardi,Geppo Sartori,Raffaele Lopreiato,Daniela Zuccarello,Ignazio D'Errico,Margherita Nosadini,Stefano Sartori,Clementina Boniver,Irene Toldo,Leonardo Salviati

PEDIATRIC NEUROLOGY（2023）

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关键词
STRADA,PMSE syndrome,Precision medicine,Yeast complementation,mTOR pathway
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