Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.N196K
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HJV

NM_213653.4:p.N196K

Associated Papers

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

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

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

Can modifier gene mutations improve the predictive value of the modified Iron Avidity Index in Type 1 Hereditary Haemochromatosis?

Zanella I et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2016

Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

Badar S et al.

American Journal of Hematology, 2016

Hereditary hemochromatosis: The same old song.

Zanella I et al.

Blood Cells, Molecules & Diseases, 2015

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

Core AB et al.

Frontiers in Pharmacology, 2014

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Non-HFE hemochromatosis.

Santos PC et al.

Revista Brasileira De Hematologia E Hemoterapia, 2012

Hemojuvelin and hepcidin genes sequencing in Brazilian patients with primary iron overload.

de Lima Santos PC et al.

Genetic Testing and Molecular Biomarkers, 2010

Non-HFE haemochromatosis.

Wallace DF et al.

World Journal of Gastroenterology, 2007

Identification of new mutations of hepcidin and hemojuvelin in patients with HFE C282Y allele.

Biasiotto G 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."