Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.L750P
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TFR2

NM_003227.4:p.L750P

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

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

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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."