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Ocular genetics in the genomics age
Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of known disease genes (gene panels, clinical exome). These tests have a variable and often limited diagnostic rate depending on the clinical presentation, size of the gene panel and our understanding o...
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| Publicat a: | Am J Med Genet C Semin Med Genet |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8170588/ https://ncbi.nlm.nih.gov/pubmed/32896097 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.c.31844 |
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