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Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome

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Description scientific article
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author: Geert Mortier  Valérie Malan  Sophie Thomas  Laurence Legeai-Mallet  Valérie Cormier-Daire  Sheela Nampoothiri  Nigel Carter  Laurence Colleaux  Arnold Munnich  Michel Vekemans  Raoul Hennekam 

Publication date July 30, 2010
Language English
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