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2020
Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M. and Wirth, B. (2020). A recurrent de novo CAPRIN1 mutation causes a novel progressive early onset neurodegenerative disorder. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 404 - 405. LONDON: SPRINGERNATURE. ISSN 1476-5438
Pavinato, L., Howe, J. L., Carli, D., Agolini, E., Coviello, D. A., Van de Laar, I. M. B. H., Au, P. Y. B., Di Gregorio, E., Giorgio, E., Pozzi, E., Ferrero, M., Cardaropoli, S., Delle Vedove, A., Salpietro, V., Zara, F., Novelli, A., Wirth, B., Ferrero, G. B., Scherer, S. W. and Brusco, A. (2020). Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 322 - 323. LONDON: SPRINGERNATURE. ISSN 1476-5438