Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
Théo Charnay, Véronique Blanck, Mathieu Cérino, Marc Bartoli, Florence Riccardi, Nathalie Bonello‐Palot, Christophe Pécheux, Karine Nguyen, Nicolas Lévy, Svetlana Gorokhova, Martin Krahn
Topics & Concepts
Medical geneticsDysferlinGenomicsGenetic variantsPathogenicityGeneticsComputational biologyMedicineBioinformaticsBiologyGeneGenotypeGenomeMicrobiologyMuscle Physiology and DisordersNeurogenetic and Muscular Disorders ResearchGenomics and Rare Diseases