Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.R65*
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TFR2

NM_003227.4:p.R65*

Associated Papers

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.

Faria R et al.

Blood Cells, Molecules & Diseases, 2016

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

Barton JC et al.

Gene, 2015

A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.

Hsiao PJ et al.

Journal of Hepatology, 2007

Iron overload and prolonged ingestion of iron supplements: clinical features and mutation analysis of hemochromatosis-associated genes in four cases.

Barton JC et al.

American Journal of Hematology, 2006

HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping.

Koefoed P et al.

Scandinavian Journal of Clinical and Laboratory Investigation, 2002

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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."