Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet (1) , Aurélia Defour (1) , Nathalie da Silva (1) , Alexandra Salvi (1) , Nicolas Levy (1) , Martin Krahn (1) , Marc Bartoli (1) , Francesca Puppo (1) , Svetlana Gorokhova (1)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Domaines: Génétique

Eugénie Dionnet, Aurélia Defour, Nathalie da Silva, Alexandra Salvi, Nicolas Levy, et al.. Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay. Human Mutation, 2020, 41 (10), pp.1797-1810. ⟨10.1002/humu.24083⟩. ⟨hal-02959280⟩