Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1270Y
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CFTR

NM_000492.4:p.D1270Y

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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-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

Frequency of allele variations in the CFTR gene in a Mexican population.

Cantú-Reyna C et al.

Bmc Medical Genomics, 2021

34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1

Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Yu MHC et al.

Plos Genetics, 2021

33600428 (PubMed )
Supplement: pgen.1009323.s003.xlsx › ___1
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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."