Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G103E
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CFTR

NM_000492.4:p.G103E

Associated Papers

Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.

Ward A et al.

Human Mutation, 2024

Cystic Fibrosis and Cancer: Unraveling the Complex Role of CFTR Gene in Cancer Susceptibility.

Parisi GF et al.

Cancers, 2023

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.

Corvol H et al.

Nature Communications, 2015

26417704 (PubMed )
Supplement: ncomms9382-s1.pdf

Association of TNF-α Gene Variants With Clinical Manifestation of Cystic Fibrosis Patients of Iranian Azeri Turkish Ethnicity.

Khorrami A et al.

Iranian Journal of Pediatrics, 2015

Lung disease modifier genes in cystic fibrosis.

Guillot L et al.

The International Journal of Biochemistry & Cell Biology, 2014

[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].

Lay-Son R G et al.

Revista Chilena De Pediatria, 2014

TNF-alpha polymorphisms as a potential modifier gene in the cystic fibrosis.

Coutinho CA et al.

International Journal of Molecular Epidemiology and Genetics, 2014

Genetic influences on cystic fibrosis lung disease severity.

Weiler CA et al.

Frontiers in Pharmacology, 2013

Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients.

Corvol H et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012

Tumour necrosis factor gene polymorphism and disease prevalence.

Qidwai T et al.

Scandinavian Journal of Immunology, 2011

Cystic fibrosis conductance regulator, tumor necrosis factor, interferon alpha-10, interferon alpha-17, and interferon gamma genotyping as potential risk markers in pulmonary sarcoidosis pathogenesis in Greek patients.

Makrythanasis P et al.

Genetic Testing and Molecular Biomarkers, 2010

Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.

Papatheodorou A et al.

Clinical Biochemistry, 2007

Disease modifying genes in cystic fibrosis.

Slieker MG et al.

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

Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype.

Yarden J et al.

Thorax, 2005

TNF-alpha promoter polymorphism in relation to TNF-alpha production and clinical status in cystic fibrosis.

Schmitt-Grohé S et al.

Lung, 0

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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."