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Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations
BACKGROUND: Panel‐based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes. METHODS: A total o...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057104/ https://ncbi.nlm.nih.gov/pubmed/31944634 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1117 |
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