Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.L155P
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BSCL2

NM_001122955.4:p.L155P

Associated Papers

Function of seipin: new insights from Bscl2/seipin knockout mouse models.

Dollet L et al.

Biochimie, 2014

Seipin differentially regulates lipogenesis and adipogenesis through a conserved core sequence and an evolutionarily acquired C-terminus.

Yang W et al.

The Biochemical Journal, 2013

Seipin: from human disease to molecular mechanism.

Cartwright BR et al.

Journal of Lipid Research, 2012

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Miranda DM et al.

Clinical Endocrinology, 2009

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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."