Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.Y190*
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AGPAT2

NM_006412.4:p.Y190*

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

A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Broekema MF et al.

Frontiers in Physiology, 2018

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.

Hegele RA et al.

Journal of Lipid Research, 2007

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 2004

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."