Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L285V
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SDS

NM_006843.3:p.L285V

Associated Papers

Biased signaling in naturally occurring mutations in human melanocortin-3 receptor gene.

Yang F et al.

International Journal of Biological Sciences, 2015

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.

Mencarelli M et al.

Human Molecular Genetics, 2011

Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation.

Teresi RE et al.

American Journal of Human Genetics, 2007

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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."