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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
In: ISSN: 1432-1203 ; Hum Genet ; https://hal.archives-ouvertes.fr/hal-02104155 ; Hum Genet, 2017, 136, pp.377-386. ⟨10.1007/s00439-017-1763-1⟩ ; https://link.springer.com/article/10.1007/s00439-017-1763-1 (2017)
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