Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C68Y
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GPIHBP1

NM_178172.6:p.C68Y

Associated Papers

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

The GPIHBP1-LPL complex and its role in plasma triglyceride metabolism: Insights into chylomicronemia.

Jiang S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.

Sustar U et al.

Frontiers in Genetics, 2022

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP et al.

Circulation Research, 2015

Deletion of GPIHBP1 causing severe chylomicronemia.

Rios JJ et al.

Journal of Inherited Metabolic Disease, 2012

GPIHBP1, an endothelial cell transporter for lipoprotein lipase.

Young SG et al.

Journal of Lipid Research, 2011

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.

Coca-Prieto I et al.

Journal of Internal Medicine, 2011

Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.

Chokshi N et al.

Journal of Clinical Lipidology, 0

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Buonuomo PS et al.

Journal of Clinical Lipidology, 0

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

Ariza MJ et al.

Journal of Clinical Lipidology, 0

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

Rabacchi C et al.

Journal of Clinical Lipidology, 0

Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.

Patni N et al.

Journal of Clinical Lipidology, 0

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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."