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    • Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice 

      Rawlins, L. E.; Almousa, H.; Khan, S.; Collins, S. C.; Milev, M. P.; Leslie, J.; Saint-Dic, D.; Khan, V.; Hincapie, A. M.; Day, J. O.; McGavin, L.; Rowley, C.; Harlalka, G. V.; Vancollie, V. E.; Ahmad, W.; Lelliott, C. J.; Gul, A.; Yalcin, B.; Crosby, A. H.; Sacher, M.; Baple, E. L. (PLoS One, 2022-03-01)
      The highly evolutionarily conserved transport protein particle (TRAPP) complexes (TRAPP II and III) perform fundamental roles in subcellular trafficking pathways. Here we identified biallelic variants in TRAPPC10, a component ...