Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.G463V
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SELENON

NM_020451.3:p.G463V

Associated Papers

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P et al.

Journal of Molecular Medicine (berlin, Germany), 2012

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.

Maiti B et al.

Human Mutation, 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."