Varaico: Literature-Extracted Genetic Variants

Gene:VWA1
Variant:p.T84delFs
Back to variants list

VWA1

NM_022834.5:p.T84delFs

Associated Papers

Proteomic studies in VWA1-related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers.

Athamneh M et al.

Journal of Cellular and Molecular Medicine, 2024

Bi-allelic truncating mutations in VWA1 cause neuromyopathy.

Deschauer M et al.

Brain : a Journal of Neurology, 2021

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."