Varaico: Literature-Extracted Genetic Variants

Gene:BSCL2
Variant:p.R162_V163Splc
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BSCL2

NM_001122955.4:p.R162_V163Splc

Associated Papers

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.

Hegele RA et al.

Journal of Lipid Research, 2007

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."