Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.V528A
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HK1

NM_033500.2:p.V528A

Associated Papers

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."