Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.G159delFs
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GPIHBP1

NM_178172.6:p.G159delFs

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

A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis.

Jung MK et al.

Annals of Pediatric Endocrinology & Metabolism, 2017

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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."