Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.R42fs
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HAMP

NM_021175.4:p.R42fs

Associated Papers

Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management.

Wu HX et al.

Molecular Genetics & Genomic Medicine, 2020

33016646 (PubMed )
Supplement: MGG3-8-e1522-s001.docx

Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis.

Hattori A et al.

Blood Cells, Molecules & Diseases, 2012

Iron overload in the Asian community.

Lok CY et al.

Blood, 2009

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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."