Concepedia

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor, Kyle Kaniecki, Haihui Yu, Neeraj Sharma, Anabela S. Ramalho, Margarida D. Amaral, Ruslan Dorfman, Julian Zielenski,

Nature Genetics · 2013 · 625 citations · 69 references

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69

An integrated map of genetic variation from 1,092 human genomes

Nature · 2012 · 8.2K citations · Full text

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Spirometric Reference Values from a Sample of the General U.S. Population

John Hankinson, John Odencrantz, Kathleen B. Fedan · American Journal of Respiratory and Critical Care Medicine · 1999 · 4.3K citations

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A CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation

Bonnie W. Ramsey, Jane C. Davies, Noel G. McElvaney et al. · New England Journal of Medicine · 2011 · 2.2K citations · Full text

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Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

Seng H. Cheng, Richard J. Gregory, John Marshall et al. · Cell · 1990 · 1.8K citations

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A TEST FOR CONCENTRATION OF ELECTROLYTES IN SWEAT IN CYSTIC FIBROSIS OF THE PANCREAS UTILIZING PILOCARPINE BY IONTOPHORESIS

Lewis E. Gibson, Robert E. Cooke · PEDIATRICS · 1959 · 1.4K citations

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