Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.G66*
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HJV

NM_213653.4:p.G66*

Associated Papers

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

Hernández G et al.

Genes, 2021

Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Takami A et al.

Pharmaceuticals (basel, Switzerland), 2020

Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy.

Neřoldová M et al.

Clinical Genetics, 2015

Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Core AB et al.

Frontiers in Pharmacology, 2014

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy.

Jánosi A et al.

Blood, 2005

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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."