Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.R30fs
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TFR2

NM_003227.4:p.R30fs

Associated Papers

Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype.

Ravasi G et al.

American Journal of Hematology, 2015

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."