Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.L124fs
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AGPAT2

NM_006412.4:p.L124fs

Associated Papers

The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology.

de Melo MEC et al.

International Journal of Molecular Sciences, 2025

Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.

Montenegro Junior RM et al.

Diabetology & Metabolic Syndrome, 2020

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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."