Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.L334F
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LIPA

NM_000235.4:p.L334F

Associated Papers

Hepatic lipase gene polymorphisms influence plasma HDL levels. Results from Finnish EARS participants. European Atherosclerosis Research Study.

Murtomäki S et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 1997

Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene.

Knudsen P et al.

Atherosclerosis, 1997

A compound heterozygote for hepatic lipase gene mutations Leu334-->Phe and Thr383-->Met: correlation between hepatic lipase activity and phenotypic expression.

Knudsen P et al.

Journal of Lipid Research, 1996

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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."