Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.L233V
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SLC40A1

NM_014585.6:p.L233V

Associated Papers

Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload.

Atanasio A et al.

International Journal of Laboratory Hematology, 2023

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

Ferroportin disease: A novel SLC40A1 mutation.

Ravasi G et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2020

Ferroportin disease: a systematic meta-analysis of clinical and molecular findings.

Mayr R et al.

Journal of Hepatology, 2010

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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."