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

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the translation of genomic variation to clinical practice. Few of the almost 2,000 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have empirical evidence that they cause cystic fibrosi...

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Detaylı Bibliyografya
Asıl Yazarlar: Sosnay, Patrick R, Siklosi, Karen R, Van Goor, Fredrick, Kaniecki, Kyle, Yu, Haihui, Sharma, Neeraj, Ramalho, Anabela S, Amaral, Margarida D, Dorfman, Ruslan, Zielenski, Julian, Masica, David L, Karchin, Rachel, Millen, Linda, Thomas, Philip J, Patrinos, George P, Corey, Mary, Lewis, Michelle H, Rommens, Johanna M, Castellani, Carlo, Penland, Christopher M, Cutting, Garry R
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2013
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3874936/
https://ncbi.nlm.nih.gov/pubmed/23974870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2745
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