Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N417N
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CFTR

NM_000492.4:p.N417N

Associated Papers

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

Han Y et al.

Heliyon, 2024

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

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

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

Leung ML et al.

Scientific Data, 2020

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

Trujillano D et al.

Molecular Genetics & Genomic Medicine, 2015

Relationship between CFTR and CTRC variants and the clinical phenotype in late-onset cystic fibrosis disease with chronic pancreatitis.

Tomaiuolo AC et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

Amato F et al.

Plos One, 2013

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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."