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Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype

INTRODUCTION: About 66% of chromosomal microdeletions and microduplications associated with pathological conditions are inherited [Smajlagić D. et al., 2021]. The mechanisms of incomplete penetrance and variable expressivity of CNV are not fully understood. The presence of concomitant CNVs in the ge...

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Detalles Bibliográficos
Autores principales:	Belyaeva, E., Kashevarova, A., Drozdov, G., Fedotov, D., Lebedev, I.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2022
Materias:	Abstract
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9566420/ http://dx.doi.org/10.1192/j.eurpsy.2022.968

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