Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.A617_G618Splc
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HK1

NM_033497.3:p.A617_G618Splc

Associated Papers

A nonsense variant in the Hexokinase 1 gene (HK1) causing severe non-spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms.

Jamwal M et al.

British Journal of Haematology, 2019

HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.

van Wijk R et al.

Blood, 2003

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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."