Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1239_V1240Splc
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CFTR

NM_000492.4:p.R1239_V1240Splc

Associated Papers

Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis.

Bacalhau M et al.

Journal of Personalized Medicine, 2024

Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Tümmler B

Frontiers in Pharmacology, 2023

Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

Muilwijk D et al.

The European Respiratory Journal, 2022

35086832 (PubMed )
Supplement: ERJ-00508-2021.Supplement.pdf

Forskolin induced swelling (FIS) assay in intestinal organoids to guide eligibility for compassionate use treatment in a CF patient with a rare genotype.

Aalbers BL et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022

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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."