The importance of functional tests to assess the effect of a new variant when genotype-phenotype correlation is not possible.

Alexandre Hinzpeter Marie-Pierre Reboul Isabelle Callebaut Cécile Zordan Bruno Costes Julie Guichoux Albert Iron Didier Lacombe Natacha Martin Benoit Arveiler Pascale Fanen Patricia Fergelot Emmanuelle Girodon

Clin Case Rep

Département de Génétique Hôpital Henri Mondor, AP-HP Créteil France.

Published: May 2017

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412805	PMC
http://dx.doi.org/10.1002/ccr3.760	DOI Listing

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