Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.Y72*
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AGPAT2

NM_006412.4:p.Y72*

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

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

Haghighi A et al.

Clinical Genetics, 2016

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