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TLK2-associated intellectual disability: expanding the disease phenotype and characterizing missense variants at the molecular level

L. Pavinato, M. Villamor-Paya, M. Sanchiz-Calvo,C. Andreoli,S. Martinelli,E. Giorgio,D. Carli,V. Antona, K. Ranguin,C. Colson,S. De Rubeis, B. Alessandro,T. Pippucci,P. Dimartino, M. Scaramuzzino,V. Rizzo,A. Ciolfi,C. Radio, J. Buxbaum,G. B. Ferrero, T. Marco,T. H. Stracker,A. Brusco

EUROPEAN JOURNAL OF HUMAN GENETICS(2020)

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