Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.Q196fs
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AGPAT2

NM_006412.4:p.Q196fs

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

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

Costa-Riquetto AD et al.

Archives of Endocrinology and Metabolism, 2021

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Vatier C et al.

Current Medical Research and Opinion, 2019

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

Broekema MF et al.

Frontiers in Physiology, 2018

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A et al.

Clinical Genetics, 2016

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Al-Gazali L et al.

Human Mutation, 2010

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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."