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Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
PURPOSE: To determine the role of mosaicism in the pathogenesis and inheritance of Rett and Rett-like disorders. METHODS: We recruited 471 Rett and Rett-like patients. Panel-sequencing targeting MECP2, CDKL5, and FOXG1 was performed. Mosaicism was quantified in 147 patients by a Bayesian genotyper....
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group US
2018
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6752670/ https://ncbi.nlm.nih.gov/pubmed/30405208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0348-2 |
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