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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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Détails bibliographiques
Publié dans:Hum Mol Genet
Auteurs principaux: Masica, David L., Sosnay, Patrick R., Raraigh, Karen S., Cutting, Garry R., Karchin, Rachel
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2015
Sujets:
Accès en ligne: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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