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P237: A de novo gain-of-function ANO5 variant in a patient with anoctaminopathy5-related muscular dystrophy challenges the skeletal/muscular phenotype dichotomy into question by Reynold Ly, Kayla Treat, Brett Graham, Erin Conboy, Anna Boccaccio, Francesco Vetrini
Published 2023-01-01
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Current Methods to Unravel the Functional Properties of Lysosomal Ion Channels and Transporters by Margherita Festa, Velia Minicozzi, Anna Boccaccio, Laura Lagostena, Antonella Gradogna, Tianwen Qi, Alex Costa, Nina Larisch, Shin Hamamoto, Emanuela Pedrazzini, Stefan Milenkovic, Joachim Scholz-Starke, Matteo Ceccarelli, Alessandro Vitale, Petra Dietrich, Nobuyuki Uozumi, Franco Gambale, Armando Carpaneto
Published 2022-03-01
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