Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.I485_S487del3
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SLC40A1

NM_014585.6:p.I485_S487del3

Associated Papers

A simple clinical score to promote and enhance ferroportin disease screening.

Landemaine A et al.

Journal of Hepatology, 2022

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

Majore S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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."