Varaico: Literature-Extracted Genetic Variants

Gene:PURA
Variant:p.S105_V106del0
Back to variants list

PURA

NM_005859.5:p.S105_V106del0

Associated Papers

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options.

Mroczek M et al.

International Journal of Molecular Sciences, 2023

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."