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Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
PURPOSE: Drug development strategies for genetic diseases depend critically on accurate knowledge of how pathogenic variants cause disease. For some well‐studied genes, the direct effects of pathogenic variants are well documented as loss‐of‐function, gain‐of‐function or hypermorphic, or a combinati...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834146/ https://www.ncbi.nlm.nih.gov/pubmed/36374045 http://dx.doi.org/10.1002/mgg3.2097 |