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Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability

BACKGROUND & OBJECTIVES: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). Along with clinically relevant variants, CMA platforms also identify variants of unknown signific...

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Detalles Bibliográficos
Autores principales: Boggula, Vijay Raju, Agarwal, Meenal, Kumar, Rashmi, Awasthi, Shally, Phadke, Shubha R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774067/
https://www.ncbi.nlm.nih.gov/pubmed/26831419
http://dx.doi.org/10.4103/0971-5916.174561