CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

doi:10.1002/humu.23276

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CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Human mutation - 1 Oct 2017

Claustres Mireille, Thèze Corinne, des Georges Marie, Baux David, Girodon Emmanuelle, Bienvenu Thierry, Audrezet Marie-Pierre, Dugueperoux Ingrid, Férec Claude, Lalau Guy, Pagin Adrien, Kitzis Alain, Thoreau Vincent, Gaston Véronique, Bieth Eric, Malinge Marie-Claire, Reboul Marie-Pierre, Fergelot Patricia, Lemonnier Lydie, Mekki Chadia, Fanen Pascale, Bergougnoux Anne, Sasorith Souphatta, Raynal Caroline, Bareil Corinne

Abstract excerpt

Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on...

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PMID: 28603918
DOI: 10.1002/humu.23276

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CFTR

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