Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Q283*
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HFE

NM_000410.4:p.Q283*

Associated Papers

HFE gene: Structure, function, mutations, and associated iron abnormalities.

Barton JC et al.

Gene, 2015

A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay.

Padula MC et al.

Blood Cells, Molecules & Diseases, 2014

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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."