Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.H268Y
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LPL

NM_000237.3:p.H268Y

Associated Papers

Lipoprotein Lipase: Structure, Function, and Genetic Variation.

Perera SD et al.

Genes, 2025

Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.

Wang M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Vidanapathirana DM et al.

Global Pediatric Health, 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."