CFTR-France Variants List History


Please click below for a file containing the list of CFTR-France variants and their classification.


In the most recent file (8 october 2021), a total of 985 variants are reported in CFTR-France.


Versions:
List of all CFTR-France variants (08/10/2021)
List of all CFTR-France variants (19/02/2021)
List of all CFTR-France variants (01/10/2020)
List of all CFTR-France variants (09/09/2019)
List of all CFTR-France variants (03/07/2019)




Citing CFTR-France


Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. PMID: 28603918




Go to CFTRare