Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1172*
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CFTR

NM_000492.4:p.E1172*

Associated Papers

A uniquely efficacious type of CFTR corrector with complementary mode of action.

Marchesin V et al.

Science Advances, 2024

Correctors of the Major Cystic Fibrosis Mutant Interact through Membrane-Spanning Domains.

Laselva O et al.

Molecular Pharmacology, 2018

Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.

Molinski SV et al.

Embo Molecular Medicine, 2017

The investigational Cystic Fibrosis drug Trimethylangelicin directly modulates CFTR by stabilizing the first membrane-spanning domain.

Laselva O et al.

Biochemical Pharmacology, 2016

Facilitating Structure-Function Studies of CFTR Modulator Sites with Efficiencies in Mutagenesis and Functional Screening.

Molinski SV et al.

Journal of Biomolecular Screening, 2015

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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."