Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Exploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays

Abstract Background TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and s...

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Main Authors: Cristina Fortuno, Inés Llinares-Burguet, Daffodil M. Canson, Miguel de la Hoya, Elena Bueno-Martínez, Lara Sanoguera-Miralles, Sonsoles Caldes, Paul A. James, Eladio A. Velasco-Sampedro, Amanda B. Spurdle
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Human Genomics
Subjects:
TP53
Splicing
SpliceAI
PVS1
VCEP specifications
Online Access:https://doi.org/10.1186/s40246-024-00714-5
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