Articles with "variants cnvs" as a keyword



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Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD

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Published in 2020 at "Molecular Autism"

DOI: 10.1186/s13229-020-00343-4

Abstract: Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a… read more here.

Keywords: number variants; copy number; variants cnvs; ipsc based ... See more keywords