Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S589Splc
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CFTR

NM_000492.4:p.S589Splc

Associated Papers

Development of Engineered-U1 snRNA Therapies: Current Status.

Gonçalves M et al.

International Journal of Molecular Sciences, 2023

CFTR Gene Mutations in the Egyptian Population: Current and Future Insights for Genetic Screening Strategy.

El-Seedy AS et al.

Frontiers in Genetics, 2017

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt.

El-Seedy A et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2016

[Influence of a genetic component on the propensity of dust-exposed workers to visceropathies (on the pattern of detecting polymorphisms in the transmembrane conductance regulatory protein CFTR gene)].

Peskov SA et al.

Meditsina Truda I Promyshlennaia Ekologiia, 2013

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E et al.

Human Molecular Genetics, 2012

22362925 (PubMed )
Supplement: supp_dds045_dds045supp.doc

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005

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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."