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Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population
Next-generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel causative genes, many patients remain without a genetic diagnosis. We studied a c...
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| Publié dans: | Clin Genet |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8077035/ https://ncbi.nlm.nih.gov/pubmed/32799327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13830 |
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