Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.F528S
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HK1

NM_000188.3:p.F528S

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

Novel pathogenic variant c.2714C>A (p. Thr905Lys) in the HK1 gene causing severe haemolytic anaemia with developmental delay in an Indian family.

Dongerdiye R et al.

Journal of Clinical Pathology, 2021

De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment.

Okur V et al.

European Journal of Human Genetics : Ejhg, 2019

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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."