Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G1047fs
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CFTR

NM_000492.4:p.G1047fs

Associated Papers

Identified five variants in CFTR gene that alter RNA splicing by minigene assay.

Zhang B et al.

Frontiers in Genetics, 2025

CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis.

Martínez-Hernández A et al.

Heliyon, 2024

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.

Schrijver I et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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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."