Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.Q293L
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HJV

NM_213653.4:p.Q293L

Associated Papers

Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.

Mojzikova R et al.

British Journal of Haematology, 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."