Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G1349A
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CFTR

NM_000492.4:p.G1349A

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

CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

Wilkinson DJ et al.

The Journal of General Physiology, 1996

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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."