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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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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Masica, David L., Sosnay, Patrick R., Cutting, Garry R., Karchin, Rachel
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Online dostop: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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