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RNA sequencing role and application in clinical diagnostic
Although whole‐exome sequencing and whole‐genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders, about half of the patients still do not receive a molecular diagnosis. The high fraction of variants with uncertain significance and the challenges of i...
| 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/PMC8960934/ https://www.ncbi.nlm.nih.gov/pubmed/35382420 http://dx.doi.org/10.1002/ped4.12314 |