Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.T740M
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TFR2

NM_003227.4:p.T740M

Associated Papers

A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.

Tang S et al.

Frontiers in Genetics, 2022

35464850 (PubMed )
Supplement: DataSheet1.docx

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Hernández G et al.

Genes, 2021

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

[Phosphate metabolism and iron deficiency].

Yokoyama K

Clinical Calcium, 2016

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Joshi R et al.

Molecular Genetics & Genomic Medicine, 2015

TFR2-related hereditary hemochromatosis as a frequent cause of primary iron overload in patients from Central-Southern Italy.

Radio FC et al.

Blood Cells, Molecules & Diseases, 0

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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."