Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.Y215_R216insFs
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BSCL2

NM_001122955.4:p.Y215_R216insFs

Associated Papers

Association between Pro12Ala, Pvull, Avall, Sstl and ADIPOQ single-nucleotide polymorphisms with lipid and glycemic profiles of patients with Berardinelli-Seip syndrome.

Baracho MF et al.

Annals of Nutrition & Metabolism, 2014

Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.

Gomes KB et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J et al.

Nature Genetics, 2001

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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."