Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.Y150C
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HJV

NM_213653.4:p.Y150C

Associated Papers

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.

Ouyang Q et al.

Orphanet Journal of Rare Diseases, 2024

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

Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report.

Kawaguchi T et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020

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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."