De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder (vol 101, pg 716, 2017)

DDD Study, C4RCD Res Grp

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    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Kuery, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogne, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., & 24 othersYang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bezieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R., Kreienkamp, H-J., DDD Study & C4RCD Res Grp, 2 Nov 2017, In: American Journal of Human Genetics. 101, 5, p. 716-724 9 p.

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