Publication | Open Access

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Acmg/amp FrameworkSystems BiologyFunctional GenomicsEngineeringMedicineGeneticsGenomicsGene ExpressionMolecular DiagnosticsBioinformaticsSplicing VariantRna Processing