Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1281R
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CFTR

NM_000492.4:p.Q1281R

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

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

On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.

Ensinck M et al.

Frontiers in Pharmacology, 2021

Chemical modifications of adenine base editor mRNA and guide RNA expand its application scope.

Jiang T et al.

Nature Communications, 2020

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
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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."