Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.E29fs
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GPIHBP1

NM_178172.6:p.E29fs

Associated Papers

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

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."