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An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
Understanding dosage sensitivity or why Mendelian diseases have dominant vs. recessive modes of inheritance is crucial for uncovering the etiology of human disease. Previous knowledge of dosage sensitivity is mainly based on observations of rare loss-of-function mutations or copy number changes, whi...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502852/ https://www.ncbi.nlm.nih.gov/pubmed/37619562 http://dx.doi.org/10.1016/j.ajhg.2023.08.002 |