Varaico: Literature-Extracted Genetic Variants

Gene:HK1
Variant:p.L444P
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HK1

NM_000188.3:p.L444P

Associated Papers

Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy.

Boddupalli CS et al.

Elife, 2022

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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."