Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Author / Organization: Chris Balak, Marianne Bénard, Elise Schaefer, Sumaiya Iqbal, Keri Ramsey, Michèle M. Ernoult-Lange, Francesca Mattioli, Lorida Llaci, Véronique Geoffroy, Maïté Courel, Marcus Naymik, Kristine K Bachman, Rolph Pfundt, Patrick Rump, Johanna ter Beest, Ingrid M Wentzensen, Kristin G Monaghan, Kirsty Mcwalter, Ryan Richholt, Antony Le Béchec, Wayne Jepsen, Matt de Both, Newell Belnap, Anne Boland, Ignazio S Piras, Jean-François Deleuze, Szabolcs Szelinger, Hélène Dollfus, Jamel Chelly, Jean Muller, Arthur Campbell, Dennis Lal, Sampathkumar Rangasamy, Jean-Louis Mandel, Vinodh Narayanan, Matt Huentelman, Dominique D. Weil, Amélie Piton
| File Format | PDF (Portable Document Format) |
|---|---|
| Publication Year | 2019 |
| Source Host |
HAL Open Science
(hal.science)
|
| License / Terms | Open Access / Creative Commons |
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