Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I521F
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CFTR

NM_000492.4:p.I521F

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.

Fevola C et al.

European Journal of Pediatrics, 2024

Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.

Terlizzi V et al.

Pediatric Pulmonology, 2023

Variability of the sweat test in children with Cystic Fibrosis previously CRMS/CFSPID: A retrospective monocenter experience.

Terlizzi V et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies.

Fanen P et al.

The International Journal of Biochemistry & Cell Biology, 2014

Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.

Poulou M et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008

Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals.

Kanavakis E et al.

Clinical Genetics, 2003

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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."