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Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Martinez, Fernando Jose; Lee, Jeong Ho; Lee, Ji Eun; Blanco, Sandra; Nickerson, Elizabeth; Gabriel, Stacey; Frye, Michaela; et al, JOURNAL OF MEDICAL GENETICS, v.49, no.6, pp.380 - 385, 2012-06

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