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American Journal of Medical Genetics. Part A|December 29, 2019
Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONOMaham Sewani, Kimberly Nugent, Patrick R Blackburn, et al.
Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
Impact of integrated translational research on clinical exome sequencingEric W Klee, Margot A Cousin, Filippo Pinto E Vairo, et al.
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