Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P5R
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CFTR

NM_000492.4:p.P5R

Associated Papers

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

Bulcaen M et al.

Cell Reports. Medicine, 2024

38697102 (PubMed )
Supplement: mmc2.xlsx › Suppl1_guideRNAs

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

Genetics of chronic rhinosinusitis: state of the field and directions forward.

Hsu J et al.

The Journal of Allergy and Clinical Immunology, 2013

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.

Cremonesi L et al.

Clinical Chemistry, 2001

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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."