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- W187179976 abstract "Over 1600 novel sequence variants in the CFTR gene have been reported to the CF Mutation Database (http://www.genet.sickkids.on.ca/cftr/Home.html). While about 25 mutations are well characterized by clinical studies and functional assays, the disease liability of most of the remaining mutations is either unclear or unknown. This gap in knowledge has implications for diagnosis, therapy selection, and counseling for patients and families carrying an uncharacterized CFTR mutation. This chapter will describe a critical approach to assessing the disease implications of CFTR mutations utilizing clinical data, literature review, functional testing, and bioinformatic in silico methods." @default.
- W187179976 created "2016-06-24" @default.
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- W187179976 date "2011-01-01" @default.
- W187179976 modified "2023-09-25" @default.
- W187179976 title "Evaluation of the Disease Liability of CFTR Variants" @default.
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- W187179976 cites W1990670389 @default.
- W187179976 cites W1992966000 @default.
- W187179976 cites W1997845597 @default.
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- W187179976 doi "https://doi.org/10.1007/978-1-61779-120-8_21" @default.
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