Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.G167D
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GPD1

NM_005276.4:p.G167D

Associated Papers

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Anlas O et al.

Biochemical Genetics, 2025

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

Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis.

Polchar L et al.

Bmj Case Reports, 2022

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

Wang J et al.

Frontiers in Genetics, 2022

Transient Infantile Hypertriglyceridemia and Hepatic Steatosis in an Infant with GPD1 Mutation.

Kumar P et al.

Indian Journal of Pediatrics, 2021

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

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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."