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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
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In: American journal of human genetics, vol 99, iss 3 (2016)
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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition
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In: http://infoscience.epfl.ch/record/222363 (2016)
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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
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