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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

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Schalk, Audrey | Cousin, Margot A | Dsouza, Nikita R | Challman, Thomas D | Wain, Karen E | Powis, Zoe | Minks, Kelly | Trimouille, Aurélien | Lasseaux, Eulalie | Lacombe, Didier | Angelini, Chloé | Michaud, Vincent | Van-Gils, Julien | Spataro, Nino | Ruiz, Anna | Gabau, Elizabeth | Stolerman, Elliot | Washington, Camerun | Louie, Ray | Lanpher, Brendan C | Kemppainen, Jennifer L | Innes, Micheil | Kooy, Frank | Meuwissen, Marije | Goldenberg, Alice | Lecoquierre, Francois | Vera, Gabriella | Diderich, Karin E M | Sheidley, Beth | El Achkar, Christelle Moufawad | Park, Meredith | Hamdan, Fadi F | Michaud, Jacques L | Lewis, Ann J | Zweier, Christiane | Reis, André | Wagner, Matias | Weigand, Heike | Journel, Hubert | Keren, Boris | Passemard, Sandrine | Mignot, Cyril | van Gassen, Koen | Brilstra, Eva H | Itzikowitz, Gina | O'Heir, Emily | Allen, Jake | Donald, Kirsten A | Korf, Bruce Richard | Skelton, Tammi | Thompson, Michelle | Robin, Nathaniel H | Rudy, Natasha L | Dobyns, William B | Foss, Kimberly | Zarate, Yuri Alexander | Bosanko, Katherine A | Alembik, Yves | Durand, Benjamin | Tran Mau-Them, Frederic | Ranza, Emmanuelle | Blanc, Xavier | Antonarakis, Stylianos E | Mcwalter, Kirsty | Torti, Erin | Millan, Francisca | Dameron, Amy | Tokita, Mari | Zimmermann, Michael T | Klee, Eric W | Piton, Amélie | Gerard, Bénédicte

Edité par CCSD ; BMJ Publishing Group -

High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).

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