Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.L298P
Back to variants list

SELENON

NM_020451.3:p.L298P

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

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

Bachmann C et al.

Human Mutation, 2019

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."