Varaico: Literature-Extracted Genetic Variants

Gene:GPD1
Variant:p.R269W
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GPD1

NM_005276.4:p.R269W

Associated Papers

Rare Transient Infantile Hypertriglyceridemia with Hypoglycemia and Insulin Resistance Caused by a Novel GPD1 Mutation.

Tan Y et al.

Molecular Syndromology, 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

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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."