The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

por Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio
Publicado 2019

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

por Morbidoni, Valeria, Baschiera, Elisa, Forzan, Monica, Fumini, Valentina, Ali, Dario Seif, Giorgi, Gianpietro, Buson, Lisa, Desbats, Maria Andrea, Cassina, Matteo, Clementi, Maurizio, Salviati, Leonardo, Trevisson, Eva
Publicado 2021