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Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity

Predicting the impact of genetic variation on human health remains an important and difficult challenge. Often, algorithmic classifiers are tasked with predicting binary traits (e.g. positive or negative for a disease) from missense variation. Though useful, this arrangement is limiting and contrive...

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Detalles Bibliográficos
Publicado en:Hum Mol Genet
Main Authors: Masica, David L., Sosnay, Patrick R., Raraigh, Karen S., Cutting, Garry R., Karchin, Rachel
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2015
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4366609/
https://ncbi.nlm.nih.gov/pubmed/25489051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu607
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