Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G461E
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CFTR

NM_000492.4:p.G461E

Associated Papers

Cystic fibrosis therapy: from symptoms to the cause of the disease.

Kireeva TN et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2025

Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.

Cuyx S et al.

Thorax, 2024

Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.

Efremova A et al.

International Journal of Molecular Sciences, 2024

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Petrova NV et al.

Genes, 2020

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Petrova NV et al.

Clinical Genetics, 2019

Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.

Ivanov M et al.

Bmc Medical Genomics, 2018

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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."