Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I1234del1
Back to variants list

CFTR

NM_000492.4:p.I1234del1

Associated Papers

Unraveling the Mechanism of Action, Binding Sites, and Therapeutic Advances of CFTR Modulators: A Narrative Review.

Baroni D

Current Issues in Molecular Biology, 2025

One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Ensinck MM et al.

Cells, 2022

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

1-BENZYLSPIRO[PIPERIDINE-4,1'-PYRIDO[3,4-b]indole] 'co-potentiators' for minimal function CFTR mutants.

Son JH et al.

European Journal of Medicinal Chemistry, 2021

Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Phuan PW et al.

Scientific Reports, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."