Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.Y64N
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TF

NM_001063.4:p.Y64N

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

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: 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."