Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.D504N
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SLC40A1

NM_014585.6:p.D504N

Associated Papers

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

A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.

Zhang W et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2019

Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

Aschemeyer S et al.

Blood, 2018

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Callebaut I et al.

Human Molecular Genetics, 2014

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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."