Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.Q125K
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HK1

NM_000188.3:p.Q125K

Associated Papers

First mutation in the red blood cell-specific promoter of hexokinase combined with a novel missense mutation causes hexokinase deficiency and mild chronic hemolysis.

de Vooght KM et al.

Haematologica, 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."