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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...
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| Pubblicato in: | Hum Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer Berlin Heidelberg
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6153495/ https://ncbi.nlm.nih.gov/pubmed/30097719 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1925-9 |
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