Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R560Splc
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CFTR

NM_000492.4:p.R560Splc

Associated Papers

Genetic investigation of sinopulmonary diseases in Vietnam: seeking specific causes from non-specific symptoms.

Phuong PT et al.

Orphanet Journal of Rare Diseases, 2025

41094464 (PubMed )
Supplement: 13023_2025_4031_MOESM1_ESM.pdf

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Kerschner JL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

Bergougnoux A et al.

Clinical Chemistry and Laboratory Medicine, 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."