Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1239del1
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CFTR

NM_000492.4:p.R1239del1

Associated Papers

CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutation.

Phuan PW et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021

Pharmacological Modulation of Ion Channels for the Treatment of Cystic Fibrosis.

Pinto MC et al.

Journal of Experimental Pharmacology, 2021

Preclinical Studies of a Rare CF-Causing Mutation in the Second Nucleotide Binding Domain (c.3700A>G) Show Robust Functional Rescue in Primary Nasal Cultures by Novel CFTR Modulators.

Laselva O et al.

Journal of Personalized Medicine, 2020

Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

Vernon RM et al.

The Journal of Biological Chemistry, 2017

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

Molinski SV et al.

Journal of Biomolecular Screening, 2015

Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.

Molinski SV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014

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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."