Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.D157Y
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TF

NM_001063.4:p.D157Y

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

Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A.

Guellec J et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Ferroportin disease mutations influence manganese accumulation and cytotoxicity.

Choi EK et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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."