Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.S470I
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TFR2

NM_003227.4:p.S470I

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

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

Hernández G et al.

Genes, 2021

A Rare Case Of a 2-year-old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation.

Khayat AA et al.

Journal of Pediatric Gastroenterology and Nutrition, 2019

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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."