Article

Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles

2025-12-02

Abstract excerpt

<h4>ABSTRACT</h4> Nonsense-mediated decay (NMD) as an RNA-surveillance pathway degrades transcripts with variants introducing premature termination codons (i.e., PTC-variants), yet a substantial subset of pathogenic PTC-variants downstream of the final exon–exon junction is predicted to escape NMD (NMD-escape) based on the canonical 50-bp rule. Our systematic analysis of germline pathogenic PTC-variants from Clin...

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Literature Corpus work: 6b2ceb70-cc0b-5956-9038-5c7deeb717d1
DOI: 10.64898/2025.12.01.25341387

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