Varaico: Literature-Extracted Genetic Variants

Gene:HAMP
Variant:p.R59*
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HAMP

NM_021175.4:p.R59*

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 novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.

Badar S et al.

American Journal of Hematology, 2016

Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.

Schaefer B et al.

Human Molecular Genetics, 2015

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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."