Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.G80V
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SLC40A1

NM_014585.6:p.G80V

Associated Papers

Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1.

Le Tertre M et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).

Uguen K et al.

Human Mutation, 2023

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Vlasveld LT et al.

Pharmaceuticals (basel, Switzerland), 2019

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.

Zhang W et al.

Medicine, 2017

Effect of ferroportin polymorphism on iron homeostasis and infection.

Kasvosve I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Non-HFE hemochromatosis.

Santos PC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr R et al.

Journal of Hepatology, 2010

Non-HFE haemochromatosis.

Wallace DF et al.

World Journal of Gastroenterology, 2007

Genetic and clinical heterogeneity of ferroportin disease.

Cremonesi L et al.

British Journal of Haematology, 2005

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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."