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Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Rare genetic disorders, while individually rare, are collectively common. They represent some of the most severe disorders affecting patients worldwide with significant morbidity and mortality. Over the last decade, advances in genomic methods have significantly uplifted diagnostic rates for patient...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8248347/ https://www.ncbi.nlm.nih.gov/pubmed/34220947 http://dx.doi.org/10.3389/fgene.2021.674295 |