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The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
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Journal Article
The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible
2017
Overview
Key Clinical Message In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns. In vitro functional tests aimed to investigate CFTR dysfunction appear critical to help elucidate the functional impact of new variants of uncertain clinical significance and solve inconclusive cases, especially in early deceased newborns.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
