Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.R335Q
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HJV

NM_213653.4:p.R335Q

Associated Papers

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

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

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

Core AB et al.

Frontiers in Pharmacology, 2014

How to assess causality of TMPRSS6 mutations?

Silvestri L et al.

Human Mutation, 2013

Role of matriptase-2 (TMPRSS6) in iron metabolism.

Lee P

Acta Haematologica, 2009

Furin-mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis.

Silvestri L et al.

Blood, 2008

HFE gene mutations in susceptibility to childhood leukemia: HuGE review.

Dorak MT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G et al.

Human Molecular Genetics, 2004

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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."