التفاصيل البيبلوغرافية
| العنوان: |
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies |
| المؤلفون: |
Carpentieri, Giovanna, Cecchetti, Serena, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Leoni, Chiara, Onesimo, Roberta, Calligari, Paolo, Pietrantoni, Agostina, Ciolfi, Andrea, Ferilli, Marco, Calderan, Cristina, Cappuccio, Gerarda, Martinelli, Simone, Messina, Elena, Caputo, Viviana, Hüffmeier, Ulrike, Mignot, Cyril, Auvin, Stéphane, Capri, Yline, Lourenco, Charles Marques, Russell, Bianca E., Neustad, Ahna, Pierri, Nicola Brunetti, Keren, Boris, Reis, André, Cohen, Julie S., Heidlebaugh, Alexis, Smith, Clay, Thiel, Christian T., Salviati, Leonardo, Zampino, Giuseppe, Campeau, Philippe M., Stella, Lorenzo, Tartaglia, Marco, Flex, Elisabetta |
| المصدر: |
In Human Genetics and Genomics Advances August 2024 |
| قاعدة البيانات: |
ScienceDirect |
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