Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.T80K
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GPIHBP1

NM_178172.6:p.T80K

Associated Papers

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

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

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

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

Ariza MJ et al.

Journal of Clinical Lipidology, 0

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