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Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
Next-generation sequencing (NGS) has overcome important limitations to the molecular diagnosis of Inherited Retinal Dystrophies (IRD) such as the high clinical and genetic heterogeneity and the overlapping phenotypes. The purpose of this study was the identification of the genetic defect in 32 Spani...
Tallennettuna:
| Julkaisussa: | Sci Rep |
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| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4817143/ https://ncbi.nlm.nih.gov/pubmed/27032803 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep23910 |
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