Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Y230F
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HFE

NM_000410.4:p.Y230F

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

Huh-7: a human "hemochromatotic" cell line.

Vecchi C et al.

Hepatology (baltimore, Md.), 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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