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A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 92, 996-1000 (2013).
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet 101, 149-156 (2017).
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Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 174, 381-389 (2017).
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