Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases
解读错义突变:MutScore 在遗传性心脏病变异解读中的基准测试
期刊:Molecular Diagnosis & Therapy
影响因子:4.4
doi:10.1007/s40291-025-00784-8
Porretta, Alessandra Pia; Fressart, Véronique; Surget, Elodie; Morgat, Charles; Bloch, Adrien; Messali, Anne; Algalarrondo, Vincent; Vedrenne, Géraldine; Pruvot, Etienne; Leenhardt, Antoine; Denjoy, Isabelle; Extramiana, Fabrice