Article
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2020
Boussaroque A, Audrézet M-P, Raynal C, Sermet-Gaudelus I, Bienvenu T, Férec C, Bergougnoux A, Lopez M, Scotet V, Munck A, Girodon E
Abstract excerpt
BACKGROUND: Major issues of newborn screening (NBS) for CF are the assessment of disease liability of variants and of the penetrance of clinical CF, notably in inconclusive diagnosis. The penetrance of CF is defined as the risk of a particular genotype to lead to a CF phenotype. METHODS: We aimed to get insight into the penetrance of CF for fifteen CFTR variants: 5 frequent CF-causing and 10 classified as of...
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