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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2018
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| Materias: | |
| 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 |