Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.L123_L124delFs
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AGPAT2

NM_006412.4:p.L123_L124delFs

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

Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Ceccarini G et al.

Frontiers in Endocrinology, 2020

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."