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    • An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. 

      Pagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da'as, Sahar I.; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; O'Donnell, Marie; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bönnemann, Carsten G.; Taylor, Jenny C.; Houlden, Henry (Oxford University Press, 2021-03-03)
      The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ...