Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.V197fs
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AGPAT2

NM_006412.4:p.V197fs

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

A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Oswiecimska J et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

Congenital generalized lipodystrophies--new insights into metabolic dysfunction.

Patni N et al.

Nature Reviews. Endocrinology, 2015

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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."