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Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant - Heart Rhythm

Characteristic craniofacial defects associated with a novel USP9X truncation mutation | Human Genome Variation

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1 | Orphanet Journal of Rare Diseases | Full Text

Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis | Cell Death & Differentiation

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Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant - Heart Rhythm,Characteristic craniofacial defects associated with a novel USP9X truncation mutation | Human Genome Variation,Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1 | Orphanet Journal of Rare Diseases | Full Text,Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis | Cell Death & Differentiation,Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant - Heart Rhythm

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