Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S589T
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CFTR

NM_000492.4:p.S589T

Associated Papers

General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.

Tedman A et al.

Elife, 2025

41379933 (PubMed )
Supplement: elife-107180-supp1.xlsx › CANX_KO_Counts

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

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

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2005

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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."