Varaico: Literature-Extracted Genetic Variants

Gene:TFR2
Variant:p.V277L
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TFR2

NM_003227.4:p.V277L

Associated Papers

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

Hernández G et al.

Genes, 2021

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Lv T et al.

Journal of Medical Genetics, 2018

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP et al.

Plos One, 2016

26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants

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."