Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G480D
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CFTR

NM_000492.4:p.G480D

Associated Papers

Calcitonin Gene-Related Peptide Level in Cystic Fibrosis Patients.

Galiniak S et al.

Life (basel, Switzerland), 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Behar DM et al.

Molecular Genetics & Genomic Medicine, 2017

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Baker MW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey.

Arik E et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 0

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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."