Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.L242P
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APOA5

NM_001371904.1:p.L242P

Associated Papers

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24788417 (PubMed )
Supplement: pone.0096482.s005.doc

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24886863 (PubMed )
Supplement: pone.0099721.s001.pdf

APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.

Dussaillant C et al.

Bmc Medical Genetics, 2012

Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.

Evans D et al.

Atherosclerosis, 2011

Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia.

Pisciotta L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

Charrière S et al.

Atherosclerosis, 2009

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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."