Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.S695S
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TFR2

NM_003227.4:p.S695S

Associated Papers

[Phosphate metabolism and iron deficiency].

Yokoyama K

Clinical Calcium, 2016

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

Del-Castillo-Rueda A et al.

Gene, 2012

Global sequencing approach for characterizing the molecular background of hereditary iron disorders.

Cunat S et al.

Clinical Chemistry, 2007

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.

Aguilar-Martinez P et al.

Haematologica, 2007

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."