Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.Y333F
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SLC40A1

NM_014585.6:p.Y333F

Associated Papers

SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review.

Li Y et al.

Bmc Medical Genomics, 2024

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

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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."