Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.Q124_L125Splc
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HK1

NM_033496.3:p.Q124_L125Splc

Associated Papers

A Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.

Bartnik M et al.

Genes, 2024

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

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