Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.S71F
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SLC40A1

NM_014585.6:p.S71F

Associated Papers

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland.

Kerr SM et al.

Nature Communications, 2026

41633988 (PubMed )
Supplement: 41467_2025_65511_MOESM3_ESM.xlsx › Sheet1

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

Landemaine A et al.

Journal of Hepatology, 2022

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

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

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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."