Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.E318G
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C2

NM_000063.6:p.E318G

Associated Papers

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.

Abedi AH et al.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023

Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.

Overgaard M et al.

Annals of Clinical Biochemistry, 2013

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