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Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.
Bryen, Samantha J; Yuen, Michaela; Joshi, Himanshu; Dawes, Ruebena; Zhang, Katharine; Lu, Jessica K; Jones, Kristi J; Liang, Christina; Wong, Wui-Kwan; Peduto, Anthony J; Waddell, Leigh B; Evesson, Frances J; Cooper, Sandra T.
Afiliación
  • Bryen SJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Yuen M; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Joshi H; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Dawes R; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Zhang K; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Lu JK; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Jones KJ; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Liang C; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Wong WK; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Peduto AJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Waddell LB; Functional Neuromics, Children's Medical Research Institute, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Evesson FJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
  • Cooper ST; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Locked Bag 4001, Westmead, NSW 2145, Australia.
HGG Adv ; 3(4): 100125, 2022 Oct 13.
Article en En | MEDLINE | ID: mdl-35847480

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: HGG Adv Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Estados Unidos