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De novo mutations in regulatory elements in neurodevelopmental disorders
We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We i...
Tallennettuna:
| Julkaisussa: | Nature |
|---|---|
| Päätekijät: | , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5912909/ https://ncbi.nlm.nih.gov/pubmed/29562236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nature25983 |
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