Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P5A
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CFTR

NM_000492.4:p.P5A

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

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.

Pastorino C et al.

Plos One, 2025

Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells.

Bulcaen M et al.

Cell Reports. Medicine, 2024

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

Identification of Allosteric Inhibitors against Active Caspase-6.

Tubeleviciute-Aydin A et al.

Scientific Reports, 2019

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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."