Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.G282D
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HJV

NM_213653.4:p.G282D

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

Hemochromatosis classification: update and recommendations by the BIOIRON Society.

Girelli D et al.

Blood, 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

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

Laursen AH et al.

Vox Sanguinis, 2018

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

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

Barton JC et al.

Gene, 2015

A late presentation of a fatal disease: juvenile hemochromatosis.

Cherfane C et al.

Case Reports in Medicine, 2013

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Mutations in HFE and TFR2 genes in a Spanish patient with hemochromatosis.

Rueda Adel C et al.

Revista Espanola De Enfermedades Digestivas, 2011

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Rochette J et al.

Human Genetics, 2010

Clinical penetrance of C282Y homozygous HFE hemochromatosis.

Rossi E et al.

Expert Review of Hematology, 2008

[Acquired and genetic factors influencing the penetrance of HFE haemochromatosis].

Deugnier Y et al.

Bulletin De L'academie Nationale De Medecine, 2008

SNP selection for genes of iron metabolism in a study of genetic modifiers of hemochromatosis.

Constantine CC et al.

Bmc Medical Genetics, 2008

Iron Overload (with Attention to Genetic Testing and Diagnosis/Management of HFE Wild Type Patients).

Siddaiah N et al.

Current Treatment Options in Gastroenterology, 2006

Recent advances in hereditary hemochromatosis.

Franchini M et al.

Annals of Hematology, 2005

Hb Gun Hill: a further de novo observation.

De Angioletti M et al.

Haematologica, 2004

Iron storage disease: facts, fiction and progress.

Beutler E

Blood Cells, Molecules & Diseases, 0

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

Pathogenesis, Diagnosis and Treatment of Hemochromatosis.

Zoller H et al.

Digestive Diseases (basel, Switzerland), 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."