Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.M1insFs
Back to variants list

SELENON

NM_020451.3:p.M1insFs

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

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Tsang MHY et al.

Molecular Genetics & Genomic Medicine, 2020

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P et al.

Journal of Molecular Medicine (berlin, Germany), 2012

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.

Okamoto Y et al.

Neurogenetics, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."