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

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

APOC2-related hypertriglyceridemia occurs due to biallelic variants of this gene. Here, genotype-phenotype architecture of all pathogenic APOC2 variants is investigated among heterozygous and homozygous individuals. Clinical heterogeneity of various types of the variants is also described, and pancr...

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Main Authors: Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2024/6653857
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