Genetic & Genomic MedicineInternational Journal of Molecular SciencesPeer-reviewed
Objective evaluation of clinical actionability for genes involved in myopathies: 63 genes with a medical value for patient care
Maude Vecten, Emmanuelle Pion, Marc Bartoli…·Mireille Cossée
The paper evaluates the clinical actionability of 63 myopathy-related genes using ClinGen criteria, finding that only 8 of the top 36 genes had prior ClinGen scores.
3 citations