Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.R71Q
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HFE

NM_000410.4:p.R71Q

Associated Papers

Testing for rare types of Hereditary Hemochromatosis. A genetic study of two Italian families affected by early onset iron overload.

Atanasio A et al.

International Journal of Laboratory Hematology, 2023

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

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.

Hattori A et al.

Blood Cells, Molecules & Diseases, 2012

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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."