Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.G221Splc
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AGPAT2

NM_006412.4:p.G221Splc

Associated Papers

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

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

Broekema MF et al.

Frontiers in Physiology, 2018

30319454 (PubMed )
Supplement: Data_Sheet_1.pdf
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