Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C68R
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GPIHBP1

NM_178172.6:p.C68R

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

Role of glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 in hypertriglyceridemia and diabetes.

Kurooka N et al.

Journal of Diabetes Investigation, 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

Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

Yamamoto H et al.

Journal of Atherosclerosis and Thrombosis, 2013

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

Ariza MJ 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."