Varaico: Literature-Extracted Genetic Variants

Gene:CAPG
Variant:p.C282Y
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CAPG

NM_001747.4:p.C282Y

Associated Papers

Hereditary hemochromatosis: data from a single center Copenhagen cohort.

Therkildsen R et al.

Scandinavian Journal of Gastroenterology, 2022

The Nrf2-mediated defense mechanism associated with HFE genotype limits vulnerability to oxidative stress-induced toxicity.

Song IY et al.

Toxicology, 2020

Association of Transferrin Saturation With the Arthropathy of Hereditary Hemochromatosis.

Whalen NL et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2017

Hereditary Hemochromatosis Predisposes Mice to Yersinia pseudotuberculosis Infection Even in the Absence of the Type III Secretion System.

Miller HK et al.

Frontiers in Cellular and Infection Microbiology, 2016

[Investigation of the association between paraoxonase-1 gene polymorphisms and response to therapy in chronic hepatitis C patients].

Kıratlı K et al.

Mikrobiyoloji Bulteni, 2014

[Molecular genetic analysis and clinical aspects of patients with hereditary hemochromatosis].

Lange U et al.

Der Orthopade, 2014

HFE H63D polymorphism as a modifier of the effect of cumulative lead exposure on pulse pressure: the Normative Aging Study.

Zhang A et al.

Environmental Health Perspectives, 2010

Elevated MCP-1 serum levels are associated with the H63D mutation and not the C282Y mutation in hereditary hemochromatosis.

Lawless MW et al.

Tissue Antigens, 2007

Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype.

Carroll GJ

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2006

[Arthropathy of hereditary hemochromatosis].

Rihl M et al.

Zeitschrift Fur Rheumatologie, 2004

Arthritis in hemochromatosis or iron storage disease.

Jordan JM

Current Opinion in Rheumatology, 2004

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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."