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Assessing the Disease-Liability of Mutations in CFTR
Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has be...
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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Cold Spring Harbor Laboratory Press
2012
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3543074/ https://ncbi.nlm.nih.gov/pubmed/23209179 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a009480 |
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