Varaico: Literature-Extracted Genetic Variants

Gene:AGPAT2
Variant:p.V223_T224insFs
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AGPAT2

NM_006412.4:p.V223_T224insFs

Associated Papers

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].

Barra CB et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2011

Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.

Fu M et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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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."