Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.P868S
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HK1

NM_033496.3:p.P868S

Associated Papers

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia: A case series with emphasis on the HK1 promoter variant and literature review.

Ukonmaanaho EM et al.

British Journal of Haematology, 2024

Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.

Koralkova P et al.

Blood Cells, Molecules & Diseases, 2016

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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."