Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R785Q
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CFTR

NM_000492.4:p.R785Q

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-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

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

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_8

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

Genetic testing in pancreatitis.

Ooi CY et al.

Gastroenterology, 2010

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 2006

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

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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."