Genetic & Genomic MedicineHuman GenomicsPeer-reviewed
RENOVO-NF1 accurately predicts NF1 missense variant pathogenicity
Emanuele Bonetti, Serena Pellegatta, Nayma Rosati…·Luca Mazzarella
RENOVO-NF1 predicts pathogenicity of NF1 missense variants with high accuracy, reclassifying many variants of unknown significance.
2 citations