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SaveCritical assessment of missense variant effect predictors on disease-relevant variant data
Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, Francois; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Celine; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N.; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E.; Ioannidis, Nilah M.
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SaveNPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia
Coutelier, Marie; Jacoupy, Maxime; Janer, Alexandre; Renaud, Flore; Auger, Nicolas; Saripella, Ganapathi-Varma; Ancien, Francois; Pucci, Fabrizio; Rooman, Marianne; Gilis, Dimitri; Lariviere, Roxanne; Sgarioto, Nicolas; Valter, Remi; Guillot-Noel, Lena; Le Ber, Isabelle; Sayah, Sabrina; Charles, Perrine; Nuemann, Astrid; Pauly, Martje G.; Helmchen, Christoph; Deininger, Natalie; Haack, Tobias B.; Brais, Bernard; Brice, Alexis; Tregouet, David-Alexandre; El Hachimi, Khalid H.; Shoubridge, Eric A.; Durr, Alexandra; Stevanin, Giovanni
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Saveb2bTools: online predictions for protein biophysical features and their conservation
Kagami, Luciano Porto; Orlando, Gabriele; Raimondi, Daniele; Ancien, Francois; Dixit, Bhawna; Gavalda-Garcia, Jose; Ramasamy, Pathmanaban; Roca-Martinez, Joel; Tzavella, Konstantina; Vranken, Wim
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