Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L1414_V1415Splc
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CFTR

NM_000492.4:p.L1414_V1415Splc

Associated Papers

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

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.

Berkers G et al.

Cell Reports, 2019

Apical CFTR expression in human nasal epithelium correlates with lung disease in cystic fibrosis.

van Meegen MA et al.

Plos One, 2013

Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms.

Vernooij-van Langen AM et al.

Molecular Genetics and Metabolism, 0

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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."