Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.W490L
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SELENON

NM_020451.3:p.W490L

Associated Papers

Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies.

Zhang S et al.

Frontiers in Neurology, 2021

34867752 (PubMed )
Supplement: Table_1.XLSX › list

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P et al.

Journal of Molecular Medicine (berlin, Germany), 2012

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.

Herasse M et al.

Journal of Neuropathology and Experimental Neurology, 2007

Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.

Sponholz S et al.

Journal of Child Neurology, 2006

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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."