Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.R66C
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HFE

NM_000410.4:p.R66C

Associated Papers

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Aguilar-Martinez P et al.

Haematologica, 2011

EASL clinical practice guidelines for HFE hemochromatosis.

Unknown Author

Journal of Hepatology, 2010

Genetic and metabolic factors are associated with increased hepatic iron stores in a selected population of p.Cys282Tyr heterozygotes.

Mariani R et al.

Blood Cells, Molecules & Diseases, 2010

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

Biasiotto G et al.

Clinical Chemistry, 2003

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 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."