Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.D129N
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HFE

NM_000410.4:p.D129N

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

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients.

Santos PC et al.

Blood Cells, Molecules & Diseases, 2011

HFE gene mutations in patients with primary iron overload: is there a significant improvement in molecular diagnosis yield with HFE sequencing?

Santos PC et al.

Blood Cells, Molecules & Diseases, 2010

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.

Mendes AI et al.

Annals of Hematology, 2009

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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."