Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D84E
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SLC40A1

NM_014585.6:p.D84E

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

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

Guellec J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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

The dynamics of hepcidin-ferroportin internalization and consequences of a novel ferroportin disease mutation.

Wallace DF et al.

American Journal of Hematology, 2017

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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."