Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.R63G
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HJV

NM_213653.4:p.R63G

Associated Papers

Increased Red Blood Cell Count With High Hemoglobin Indicates a Different Diagnosis From Beta-thalassemia Trait, Regardless of Mean Corpuscular Volume: Hereditary Hemochromatosis-A Retrospective Analysis.

Aslan D et al.

Journal of Pediatric Hematology/oncology, 2026

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene.

Moreno-Risco MB et al.

Case Reports in Pediatrics, 2022

Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.

Barton JC et al.

Plos One, 2022

From Environment to Genome and Back: A Lesson from HFE Mutations.

Rametta R et al.

International Journal of Molecular Sciences, 2020

Causes of iron overload in blood donors - a clinical study.

Laursen AH et al.

Vox Sanguinis, 2018

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Frequency of the hemochromatosis gene (HFE) 282C-->Y, 63H-->D, and 65S-->C mutations in a general Mediterranean population from Tarragona, Spain.

Aranda N et al.

Annals of Hematology, 2007

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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."