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

Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.

Han Y et al.

Heliyon, 2024

One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.

Nunziato M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Koumpagioti D et al.

Journal of Clinical Medicine, 2023

Association of the CFTR gene with asthma and airway mucus hypersecretion.

Crespo-Lessmann A et al.

Plos One, 2021

Evaluating sequence data quality from the Swift Accel-Amplicon CFTR Panel.

Leung ML et al.

Scientific Data, 2020

Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.

Bonini J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.

Lewis C et al.

American Journal of Respiratory and Critical Care Medicine, 2015

25479583 (PubMed )
Supplement: lewis_data_supplement.pdf

UMD-CFTR: a database dedicated to CF and CFTR-related disorders.

Bareil C et al.

Human Mutation, 2010

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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."