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Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract
Pediatric cataract is highly heterogeneous clinically and etiologically. While mostly isolated, cataract can be part of many multisystem disorders, further complicating the diagnostic process. In this study, we applied genomic tools in the form of a multi-gene panel as well as whole-exome sequencing...
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| 出版年: | Hum Genet |
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| 主要な著者: | , , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2016
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5783298/ https://ncbi.nlm.nih.gov/pubmed/27878435 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-016-1747-6 |
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