Varaico: Literature-Extracted Genetic Variants

Gene:SELENON
Variant:p.R327R
Back to variants list

SELENON

NM_020451.3:p.R327R

Associated Papers

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy.

Allamand V et al.

Embo Reports, 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."