Varaico: Literature-Extracted Genetic Variants

Gene:CES1
Variant:p.G142G
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CES1

NM_001025195.2:p.G142G

Associated Papers

Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene.

Kojima S et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013

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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."