Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.C321delins
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HJV

NM_213653.4:p.C321delins

Associated Papers

Case report of hemochromatosis with HJV variation in a Chinese boy: "Non-parallel" phenomenon in phlebotomy treatment and new thinking on curative effect evaluation.

Liu Y et al.

Medicine, 2025

Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report.

Xie LD et al.

World Journal of Clinical Cases, 2024

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

Kong X et al.

Orphanet Journal of Rare Diseases, 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

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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."