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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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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Masica, David L., Sosnay, Patrick R., Raraigh, Karen S., Cutting, Garry R., Karchin, Rachel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Online Zugang: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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