Varaico: Literature-Extracted Genetic Variants

Gene:APOC2
Variant:p.E19Splc
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APOC2

NM_000483.5:p.E19Splc

Associated Papers

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

Pancreatitis as a Main Consequence of APOC2-Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.

Rabbani B et al.

International Journal of Genomics, 2024

Successful management of acute pancreatitis due to apolipoprotein C-II deficiency in a 37-day-old infant.

Yıldız Y et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2020

A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.

Jiang J et al.

Lipids in Health and Disease, 2016

Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency.

Okubo M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

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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."