De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
scientific article published in January 2018
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author: Katherine L Helbig, Davor Lessel, Alexander P Stegmann, Thomas Besnard, Jennifer E. Posey, James R. Lupski, Han G. Brunner, Yaping Yang, Jolanda H Schieving, Margot R F Reijnders, Stéphane Bézieau, Jill A Rosenfeld, Tamar Harel, Nelly Oundjian, Erica H Gerkes, Tjitske Kleefstra, Mohammad K Eldomery, Keri Ramsey, C4RCD Research Group, Benjamin Cogné, Claudia Schob, Kelsey Zegar, Sébastien Küry
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