Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.D157N
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TF

NM_001063.4:p.D157N

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

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

Comparison of responses of human melanoma cell lines to MEK and BRAF inhibitors.

Stones CJ et al.

Frontiers in Genetics, 2013

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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."