Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L263Q
Back to variants list

LPL

NM_000237.3:p.L263Q

Associated Papers

Novel pathogenic variant combination in LPL causing familial chylomicronemia syndrome in an Asian family and experimental validation in vitro: a case report.

Shi H et al.

Translational Pediatrics, 2022

Familial chylomicronemia syndrome: importance of diagnostic vigilance.

Ueda M

Translational Pediatrics, 2022

Familial chylomicronemia syndrome.

Mohandas MK et al.

Indian Journal of Pediatrics, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."