Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C77Y
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GPIHBP1

NM_178172.6:p.C77Y

Associated Papers

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Anlas O et al.

Biochemical Genetics, 2025

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Rosenson RS et al.

Nature Medicine, 2023

36879129 (PubMed )
Supplement: 41591_2023_2222_MOESM1_ESM.pdf

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

Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Birrane G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

30559189 (PubMed )
Supplement: pnas.1817984116.sd01.xlsx › Simple
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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."