Article

<i>In-Silico</i> Characterization of <i>TP53</i> Splice Mutations in Somatic and Germline Tumours

2025-06-01

Abstract excerpt

TP53 undergoes alternative splicing to produce multiple mRNA transcripts and protein isoforms, yet the effects of splice site mutations on isoform regulation, tumor-biology, and clinical outcome remain unclear. Analysis of 23,017 TP53 variants, including 18,562 somatic mutations (pan-cancer datasets – cBioPortal) and 4,455 germline variants (IARC database), identified recurrent donor (X32, X125, X224, X261, X331)...

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Literature Corpus work: 6ebf806a-acce-51ed-ada3-3be6e9f7525d
DOI: 10.1101/2025.05.27.656522

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