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Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives
The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy....
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000 Research Limited
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710381/ https://www.ncbi.nlm.nih.gov/pubmed/29225788 http://dx.doi.org/10.12688/f1000research.12365.1 |