Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.G99R
Back to variants list

HJV

NM_213653.4:p.G99R

Associated Papers

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S2

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Hernández G et al.

Genes, 2021

Ethnic Differences in Iron Status.

Kang W et al.

Advances in Nutrition (bethesda, Md.), 2021

Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Takami A et al.

Pharmaceuticals (basel, Switzerland), 2020

Repulsive guidance molecules lock growth differentiation factor 5 in an inhibitory complex.

Malinauskas T et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

Repulsive guidance molecule is a structural bridge between neogenin and bone morphogenetic protein.

Healey EG et al.

Nature Structural & Molecular Biology, 2015

Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Core AB et al.

Frontiers in Pharmacology, 2014

Hereditary haemochromatosis in a man of Pakistani descent.

Morris EA et al.

Qjm : Monthly Journal of the Association of Physicians, 2013

Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations.

McDonald CJ et al.

Journal of Gastroenterology and Hepatology, 2013

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

Santos PCJL et al.

International Journal of Molecular Sciences, 2012

Iron overload in the Asian community.

Lok CY et al.

Blood, 2009

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ et al.

Journal of Medical Genetics, 2004

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

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.

Lanzara C et al.

Blood, 2004

Hematologically important mutations: iron storage diseases.

Beutler L et al.

Blood Cells, Molecules & Diseases, 0

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."