Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C89*
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GPIHBP1

NM_178172.6:p.C89*

Associated Papers

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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Autoantibodies against GPIHBP1 as a Cause of Hypertriglyceridemia.

Beigneux AP et al.

The New England Journal of Medicine, 2017

Monoclonal antibodies that bind to the Ly6 domain of GPIHBP1 abolish the binding of LPL.

Hu X et al.

Journal of Lipid Research, 2017

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

Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.

Gong Z et al.

Journal of Clinical Lipidology, 0

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