Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V1198M
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CFTR

NM_000492.4:p.V1198M

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

Rectal organoid morphology analysis (ROMA) as a novel physiological assay for diagnostic classification in cystic fibrosis.

Cuyx S et al.

Thorax, 2024

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Bozdogan ST et al.

Genes, 2021

Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.

Ramalho AS et al.

The European Respiratory Journal, 2021

Next-generation sequencing for identifying genetic mutations in adults with bronchiectasis.

Guan WJ et al.

Journal of Thoracic Disease, 2018

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

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter E et al.

Orphanet Journal of Rare Diseases, 2017

28830496 (PubMed )
Supplement: 13023_2017_694_MOESM1_ESM.docx

Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.

Lundman E et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

Prach L et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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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."