Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1283G
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CFTR

NM_000492.4:p.R1283G

Associated Papers

CRISPR for cystic fibrosis: Advances and insights from a systematic review.

Nicosia L et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

A streamlined base editor engineering strategy to reduce bystander editing.

Valdez I et al.

Nature Communications, 2025

Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.

Yıldız CA et al.

Pediatric Pulmonology, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.

Mention K et al.

Human Molecular Genetics, 2023

Functional correction of CFTR mutations in human airway epithelial cells using adenine base editors.

Krishnamurthy S et al.

Nucleic Acids Research, 2021

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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."