Varaico: Literature-Extracted Genetic Variants

Gene:APOC2
Variant:p.W48R
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APOC2

NM_000483.5:p.W48R

Associated Papers

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

Comprehensive in-silico analysis of deleterious SNPs in APOC2 and APOA5 and their differential expression in cancer and cardiovascular diseases conditions.

Deng H et al.

Genomics, 2023

Apolipoprotein genetic variants and hereditary amyloidosis.

Jeraj N et al.

Current Opinion in Lipidology, 2021

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

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

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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."