Varaico: Literature-Extracted Genetic Variants

Gene:POGLUT1
Variant:p.W184*
Back to variants list

POGLUT1

NM_152305.3:p.W184*

Associated Papers

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Servián-Morilla E et al.

Acta Neuropathologica, 2020

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."