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Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report
BACKGROUND: Mexico is among the countries showing the highest heterogeneity of CFTR variants. However, no de novo variants have previously been reported in Mexican patients with cystic fibrosis (CF). CASE PRESENTATION: Here, we report the first case of a novel/de novo variant in a Mexican patient wi...
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| 出版年: | BMC Med Genomics |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6532186/ https://ncbi.nlm.nih.gov/pubmed/31118044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0528-1 |
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