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Results for
""Vacuolar Proton-Translocating ATPases""[mesh_terms]

74 Results
Searching titles within these results

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Francesca Clementina Radio, André Reis, Ulrike Hüffmeier, Andrea Ciolfi, Lorenzo Stella, Gianfranco Bocchinfuso, Simone Martinelli, Philippe M Campeau, Paolo Calligari, Elisabetta Flex, Charles Marques Lourenco, Yline Capri, Christian T Thiel, Gerarda Cappuccio, Cristina Calderan, Giovanna Carpentieri, Clay Smith, Alexis Heidlebaugh, Julie S Cohen, Nicola Brunetti Pierri, Ahna Neustad, Bianca E Russell, Elena Messina, Marco Ferilli, Agostina Pietrantoni, Serena Cecchetti, Roberta Onesimo, Giuseppe Zampino, Chiara Leoni, Stéphane Auvin, Boris Keren, Cyril Mignot, Marco Tartaglia, Viviana Caputo, Leonardo Salviati

HGG advances 2024;5(4):100349

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