Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.S284F
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LIPA

NM_000235.4:p.S284F

Associated Papers

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

Sarajlija A et al.

Balkan Journal of Medical Genetics : Bjmg, 2022

Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.

Mashima R et al.

International Journal of Molecular Sciences, 2020

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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."