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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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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: Masica, David L., Sosnay, Patrick R., Cutting, Garry R., Karchin, Rachel
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online pristup: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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