Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R74P
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CFTR

NM_000492.4:p.R74P

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

Crystal Structure of Isoform CBd of the Basic Phospholipase A2 Subunit of Crotoxin: Description of the Structural Framework of CB for Interaction with Protein Targets.

Nemecz D et al.

Molecules (basel, Switzerland), 2020

Genetic influences on cystic fibrosis lung disease severity.

Weiler CA et al.

Frontiers in Pharmacology, 2013

Update on gene modifiers in cystic fibrosis.

Collaco JM et al.

Current Opinion in Pulmonary Medicine, 2008

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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."