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

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 good correlation between gene locus and pati...

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Detalles Bibliográficos
Autores principales: Drakulic, Danijela, Djurovic, Srdjan, Syed, Yasir Ahmed, Trattaro, Sebastiano, Caporale, Nicolò, Falk, Anna, Ofir, Rivka, Heine, Vivi M., Chawner, Samuel J. R. A., Rodriguez-Moreno, Antonio, van den Bree, Marianne B. M., Testa, Giuseppe, Petrakis, Spyros, Harwood, Adrian J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268297/
https://www.ncbi.nlm.nih.gov/pubmed/32487215
http://dx.doi.org/10.1186/s13229-020-00343-4

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