Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.S144F
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GPIHBP1

NM_178172.6:p.S144F

Associated Papers

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

Structural Capacitance in Protein Evolution and Human Diseases.

Li C et al.

Journal of Molecular Biology, 2018

Frequency of rare mutations and common genetic variations in severe hypertriglyceridemia in the general population of Spain.

Lamiquiz-Moneo I et al.

Lipids in Health and Disease, 2016

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Surendran RP et al.

Journal of Internal Medicine, 2012

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

Buonuomo PS 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

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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."