Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression

Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to un...

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Detalles Bibliográficos
Autores principales: Devanna, Paolo, van de Vorst, Maartje, Pfundt, Rolph, Gilissen, Christian, Vernes, Sonja C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6153495/
https://www.ncbi.nlm.nih.gov/pubmed/30097719
http://dx.doi.org/10.1007/s00439-018-1925-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6153495/
https://www.ncbi.nlm.nih.gov/pubmed/30097719
http://dx.doi.org/10.1007/s00439-018-1925-9

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