Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers
M Athamneh, N Daya, A Hentschel… - Journal of Cellular …, 2024 - Wiley Online Library
Bi‐allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein
localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with …
localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with …