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Phenotype-Optimized Sequence Ensembles Substantially Improve Prediction of Disease-Causing Mutation in Cystic Fibrosis
Cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with a phenotypic spectrum that includes cystic fibrosis (CF). The disease liability of some common CFTR mutations is known, but rare mutations are seen in too few patients to categorize unequivocally, making genetic d...
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| Publicado no: | Hum Mutat |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4364283/ https://ncbi.nlm.nih.gov/pubmed/22573477 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22110 |
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