Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.R712_V713Splc
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TFR2

NM_003227.4:p.R712_V713Splc

Associated Papers

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

Hernández G et al.

Genes, 2021

Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.

Sandhu K et al.

Blood, 2018

Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.

Faria R et al.

Blood Cells, Molecules & Diseases, 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

Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis.

Del-Castillo-Rueda A et al.

Gene, 2012

Non-HFE hepatic iron overload.

Pietrangelo A et al.

Seminars in Liver Disease, 2011

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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."