Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.C321W
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HJV

NM_213653.4:p.C321W

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

Hemojuvelin is a novel suppressor for Duchenne muscular dystrophy and age-related muscle wasting.

Zhang P et al.

Journal of Cachexia, Sarcopenia and Muscle, 2019

Variation in the repulsive guidance molecule family in human populations.

Rotwein P

Physiological Reports, 2019

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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

Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Lee PL et al.

British Journal of Haematology, 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."