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Article

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

2020-11-04

Abstract excerpt

It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus co...

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Literature Corpus work
87b167a4-8dca-5c5a-930a-49b4eb776200
DOI
10.17615/f0v9-2772
Open publication

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceDOI 10.17615/f0v9-2772
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