Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.Y501C
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SLC40A1

NM_014585.6:p.Y501C

Associated Papers

Iron overload due to SLC40A1 mutation of type 4 hereditary hemochromatosis.

Hu J et al.

Medical Molecular Morphology, 2023

A simple clinical score to promote and enhance ferroportin disease screening.

Landemaine A et al.

Journal of Hepatology, 2022

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

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

Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.

Raszeja-Wyszomirska J et al.

Przeglad Gastroenterologiczny, 2014

Effect of ferroportin polymorphism on iron homeostasis and infection.

Kasvosve I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

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

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases.

Létocart E et al.

British Journal of Haematology, 2009

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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."