Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.N444_K445del1
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SELENON

NM_020451.3:p.N444_K445del1

Associated Papers

SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.

Bouman K et al.

Journal of Neuromuscular Diseases, 2023

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C et al.

Human Mutation, 2019

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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."