Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L43Q
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LPL

NM_000237.3:p.L43Q

Associated Papers

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.

Li Y et al.

Frontiers in Genetics, 2022

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

Rodrigues R et al.

Journal of Clinical Lipidology, 0

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