Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

2010/07/31 by Valérie Malan, Diana Rajan, Sophie Thomas +21 · 27 citations
Biochemistry, Genetics and Molecular Biology · #Genetic Syndromes and Imprinting #RNA Research and Splicing #RNA modifications and cancer

paper · pdf · doi:10.1016/j.ajhg.2010.07.001

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