Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.E301*
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GPD1

NM_005276.4:p.E301*

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

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

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

Wang J et al.

Frontiers in Genetics, 2022

Transient infantile hypertriglyceridemia with jaundice: A case report.

Wang J et al.

Medicine, 2021

Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.

Zeng B et al.

Frontiers in Oncology, 2021

33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1

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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