Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.I287S
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HJV

NM_213653.4:p.I287S

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

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

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

Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.

Wang Y et al.

International Journal of Hematology, 2017

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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."