Varaico: Literature-Extracted Genetic Variants

Gene:GPAT2
Variant:p.R84Splc
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GPAT2

NM_001321527.2:p.R84Splc

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

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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."