Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.G320V
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TF

NM_001063.4:p.G320V

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

31286966 (PubMed )
Supplement: 13023_2019_1097_MOESM3_ESM.docx

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

Core AB et al.

Frontiers in Pharmacology, 2014

Factors influencing disease phenotype and penetrance in HFE haemochromatosis.

Rochette J et al.

Human Genetics, 2010

Iron overload in the Asian community.

Lok CY et al.

Blood, 2009

HJV gene mutations in European patients with juvenile hemochromatosis.

Gehrke SG et al.

Clinical Genetics, 2005

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

Nelson JE et al.

Current Gastroenterology Reports, 2005

Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.

Lee PL et al.

British Journal of Haematology, 2004

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

Lanzara C et al.

Blood, 2004

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.

Papanikolaou G et al.

Nature Genetics, 2004

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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."