Varaico: Literature-Extracted Genetic Variants

Gene:SLC40A1
Variant:p.L345F
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SLC40A1

NM_014585.6:p.L345F

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

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

Landemaine A et al.

Journal of Hepatology, 2022

Genomic characterization of small cell carcinomas of the uterine cervix.

Schultheis AM et al.

Molecular Oncology, 2022

33830625 (PubMed )
Supplement: MOL2-16-833-s001.pdf

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

Ferroportin disease: pathogenesis, diagnosis and treatment.

Pietrangelo A

Haematologica, 2017

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."