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DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE <i>PCBP1</i> CAUSE A NEURODEVELOPMENTAL DISORDER

2025-12-12

Abstract excerpt

<h4>ABSTRACT</h4> Poly(rC)-binding protein 1 (PCBP1), a splicing factor and key member of the hnRNP E family, was initially characterized for its tumor suppressive properties. More recently, its role in regulating gene expression in the brain and nervous system has attracted growing interest. Through an international multicenter collaboration, we identified 13 de novo pathogenic variants in PCBP1 across 13 unre...

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Literature Corpus work: 84aac343-df8a-57db-8fa2-ed2801881f90
DOI: 10.64898/2025.12.11.25341975

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