Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.Y64H
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SLC40A1

NM_014585.6:p.Y64H

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

40225168 (PubMed )
Supplement: 5162256.f1.docx

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

Raszeja-Wyszomirska J et al.

Przeglad Gastroenterologiczny, 2014

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr R et al.

Journal of Hepatology, 2010

20691492 (PubMed )
Supplement: mmc1.pdf
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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."