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Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2019.07.010
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Abstract

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Categories
Genetics
Date

September 1, 2019

Authors
Chris BalakMarianne BenardElise SchaeferSumaiya IqbalKeri RamseyMichèle Ernoult-LangeFrancesca MattioliLorida LlaciVéronique GeoffroyMaité CourelMarcus NaymikKristine K. BachmanRolph PfundtPatrick RumpJohanna ter BeestIngrid M. WentzensenKristin G. MonaghanKirsty McWalterRyan RichholtAntony Le BéchecWayne JepsenMatt De BothNewell BelnapAnne BolandIgnazio S. PirasJean-François DeleuzeSzabolcs SzelingerHélène DollfusJamel ChellyJean MullerArthur CampbellDennis LalSampathkumar RangasamyJean-Louis MandelVinodh NarayananMatt HuentelmanDominique WeilAmélie Piton
Publisher

Elsevier BV

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