Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.L104L
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LIPA

NM_000235.4:p.L104L

Associated Papers

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Terawaki S et al.

International Journal of Molecular Sciences, 2025

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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."