Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.A274P
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SELENON

NM_020451.3:p.A274P

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

Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

Maggi L et al.

Neuromuscular Disorders : Nmd, 2013

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P et al.

Journal of Molecular Medicine (berlin, Germany), 2012

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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."