Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.Y328Y
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LIPA

NM_000235.4:p.Y328Y

Associated Papers

Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia.

Ashfield-Watt P et al.

Annals of Clinical Biochemistry, 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."