Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.S105L
Back to variants list

HJV

NM_213653.4:p.S105L

Associated Papers

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

Kong X et al.

Orphanet Journal of Rare Diseases, 2019

HFE gene mutations in susceptibility to childhood leukemia: HuGE review.

Dorak MT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.

Nelson JE et al.

Current Gastroenterology Reports, 2005

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.

Le Gac G et al.

Human Molecular Genetics, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."