Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S169insFs
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CFTR

NM_000492.4:p.S169insFs

Associated Papers

Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.

Burgel PR et al.

Eclinicalmedicine, 2025

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

Bergougnoux A et al.

Clinical Chemistry and Laboratory Medicine, 2018

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

Guissart C et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."