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Exploring the RNA Gap for Improving Diagnostic Yield in Primary Immunodeficiencies
Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25–60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent y...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917654/ https://www.ncbi.nlm.nih.gov/pubmed/31921280 http://dx.doi.org/10.3389/fgene.2019.01204 |