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Home > “Mild” CFTR genetic variants might be associated with a lower than expected probability of developing CF

“Mild” CFTR genetic variants might be associated with a lower than expected probability of developing CF

Resource Type

CF Research News

Authors

A Boussaroque, M-P Audrézet, C Raynal, I Sermet-Gaudelus, T Bienvenu, C Férec, A Bergougnoux, M Lopez, V Scotet, A Munck, E Girodon

References

J Cyst Fibros . 2020 Apr 20;S1569-1993(20)30098-9. doi: 10.1016/j.jcf.2020.03.019.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

CFSPID [3]
CFTR [4]
Inconclusive cases [5]
Newborn screening [6]
Penetrance [7]

Date

Monday, April 20, 2020

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [8]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/%E2%80%9Cmild%E2%80%9D-cftr-genetic-variants-might-be-associated-lower-expected

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-2-00007R1_FINAL_Girodon_030720.pdf [2] https://pubmed.ncbi.nlm.nih.gov/32327388/ [3] https://www.ecfs.eu/research-article-keywords/cfspid [4] https://www.ecfs.eu/research-article-keywords/cftr [5] https://www.ecfs.eu/research-article-keywords/inconclusive-cases [6] https://www.ecfs.eu/research-article-keywords/newborn-screening [7] https://www.ecfs.eu/research-article-keywords/penetrance [8] https://www.ecfs.eu/resource-guideline-type/other-guidelines