Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.F103L
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HJV

NM_213653.4:p.F103L

Associated Papers

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

Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene.

Moreno-Risco MB et al.

Case Reports in Pediatrics, 2022

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

Variation in the repulsive guidance molecule family in human populations.

Rotwein P

Physiological Reports, 2019

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.

Lv T et al.

Journal of Medical Genetics, 2018

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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."