Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.Q311*
Back to variants list

GPD1

NM_005276.4:p.Q311*

Associated Papers

Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking.

Li XY et al.

Bmc Medical Genomics, 2025

Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene.

Wang J et al.

Frontiers in Genetics, 2022

Glycerol-3-Phosphate Dehydrogenase 1 Deficiency and Steatotic Liver Disease in Children: Our Cases and Review of Literature.

Agrawal A et al.

Journal of Clinical and Experimental Hepatology, 0

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."