Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Y231del1
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HFE

NM_000410.4:p.Y231del1

Associated Papers

The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.

Kawabata H

International Journal of Hematology, 2018

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.

Hollerer I et al.

Haematologica, 2017

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

Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Zamani F et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

A novel Y231del mutation of HFE in hereditary haemochromatosis provides in vivo evidence that the Huh-7 is a human haemochromatotic cell line.

Takano A et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

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

Vecchi C et al.

Hepatology (baltimore, Md.), 2010

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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."