Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N1303fs
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CFTR

NM_000492.4:p.N1303fs

Associated Papers

Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.

Prizment A et al.

Human Molecular Genetics, 2025

39825500 (PubMed )
Supplement: supplementary_tables_ddaf007.xlsx › STable3

Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.

Sorrentino U et al.

Genes, 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Kondratyeva E et al.

Frontiers in Genetics, 2024

39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1

Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

Sicko RJ et al.

International Journal of Neonatal Screening, 2021

34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf

Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.

Baldassarri M et al.

Journal of Personalized Medicine, 2021

34203982 (PubMed )
Supplement: jpm-11-00558-s001.zip › Supp_Table_2_ok.pdf

Sequencing as a first-line methodology for cystic fibrosis carrier screening.

Beauchamp KA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
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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."