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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

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Manole, Andreea | Efthymiou, Stephanie | O'Connor, Emer | Mendes, Marisa, I | Jennings, Matthew | Jenkins, Dagan | Rodriguez Lopez, Maria | Maroofian, Reza | Salpietro, Vincenzo | Harripaul, Ricardo | Badalato, Lauren | Athanasiou-Fragkouli, Alkyoni | Sullivan, Roisin | Davagnanam, Indran | Mankad, Kshitij | Seda, Marian | Desai, Sonal | Baranano, Kristin | Zafar, Faisal | Rana, Nuzhat | Horga, Alejandro | Kara, Majdi | Mattioli, Francesca | Goldenberg, Alice | Griffin, Helen | Piton, Amelie | Henderson, Lindsay, B | Kara, Benyekhlef | Dilruba Aslanger, Ayca | Raaphorst, Joost | Pfundt, Rolph | Portier, Ruben | Shinawi, Marwan | Kirby, Amelia | Christensen, Katherine, M | Wang, Lu | Rosti, Rasim, O | Cytrynbaum, Cheryl | Paracha, Sohail, A | Sarwar, Muhammad, T | Ahmed, Jawad | Santoni, Federico, A | Ranza, Emmanuelle | Iwaszkiewicz, Justyna | Weksberg, Rosanna | Person, Richard, E | Si, Yue | Telegrafi, Aida | Andrews, Marisa, V | Baldridge, Dustin | Gabriel, Heinz | Mohr, Julia | Oehl-Jaschkowitz, Barbara | Debard, Sylvain | Senger, Bruno | Fischer, Frédéric | van Ravenwaaij, Conny | Fock, Annemarie, J M | Stevens, Servi, J C | Bähler, Jürg | Nasar, Amina | Mantovani, John, F | Manzur, Adnan | Sarkozy, Anna | Francklyn, Christopher, S | Smith, Desirée, E C | Salomons, Gajja, S | Ahmed, Zubair, M | Grimmel, Mona | Jelsig, Anne, Marie | Hjortshøj, Tina, Duelund | Karstensen, Helena, Gásdal | Haack, Tobias, B | Distelmaier, Felix | Horvath, Rita | Gleeson, Joseph, G | Becker, Hubert | Mandel, Jean-Louis | Koolen, David, A | Houlden, Henry

Edité par CCSD ; Elsevier (Cell Press) -

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