RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity
Emanuele Bonetti, Serena Pellegatta, Nayma Rosati, Marica Eoli, Luca Mazzarella
RENOVO-NF1 predicts pathogenicity of NF1 missense variants with high accuracy, reclassifying many variants of unknown significance.
Human Genomics · Aug 31, 2025Peer-reviewedGenetic & Genomic Medicine