Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.I853I
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CFTR

NM_000492.4:p.I853I

Associated Papers

Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.

De Paolis E et al.

Genes, 2023

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.

Salinas DB et al.

Annals of the American Thoracic Society, 2023

36409994 (PubMed )
Supplement: salinas_data_supplement.pdf

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Male partners of infertile couples with congenital unilateral absence of the vas deferens are mainly non-azoospermic.

Mieusset R et al.

Andrology, 2020

Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.

Bartoszewski R et al.

Cellular & Molecular Biology Letters, 2016

28536625 (PubMed )
Supplement: 11658_2016_25_MOESM2_ESM.xlsx › Sheet2
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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."