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Whole Exome Sequencing in 16p13.11 Microdeletion Patients Reveals New Variants Through Deductive and Systems Medicine Approaches
The 16p13.11 microdeletion, whose prevalence in the general population is about 0.04%, is known in literature as a predisposition factor to neurodevelopmental disorders, being found in about 0.13% of patients with schizophrenia, in 0.5–0.6% of patient with epilepsy, cognitive impairment, autism spec...
Autores principales: | Granata, Paola, Cocciadiferro, Dario, Zito, Alessandra, Pessina, Chiara, Bassani, Alessandro, Zambonin, Fabio, Novelli, Antonio, Fasano, Mauro, Casalone, Rosario |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965081/ https://www.ncbi.nlm.nih.gov/pubmed/35368691 http://dx.doi.org/10.3389/fgene.2022.798607 |
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