Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.N185D
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SLC40A1

NM_014585.6:p.N185D

Associated Papers

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

Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.

Détivaud L et al.

Human Mutation, 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

Non-HFE haemochromatosis.

Wallace DF et al.

World Journal of Gastroenterology, 2007

A novel ferroportin mutation in a Canadian family with autosomal dominant hemochromatosis.

Morris TJ et al.

Blood Cells, Molecules & Diseases, 0

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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."