Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.G464D
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TFR2

NM_003227.4:p.G464D

Associated Papers

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

Joshi R et al.

Molecular Genetics & Genomic Medicine, 2015

26029709 (PubMed )
Supplement: mgg30003-0221-sd1.docx

Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.

Koyama C et al.

Haematologica, 2005

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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."