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Functional and structural analyses of novel Smith-Kingsmore Syndrome-Associated MTOR variants reveal potential new mechanisms and predictors of pathogenicity.
Besterman, Aaron D; Althoff, Thorsten; Elfferich, Peter; Gutierrez-Mejia, Irma; Sadik, Joshua; Bernstein, Jonathan A; van Ierland, Yvette; Kattentidt-Mouravieva, Anja A; Nellist, Mark; Abramson, Jeff; Martinez-Agosto, Julian A.
Afiliação
  • Besterman AD; University of California Los Angeles, Semel Institute for Neuroscience and Human Behavior, Los Angeles, California, United States of America.
  • Althoff T; University of California Los Angeles, Division of Child and Adolescent Psychiatry, Department of Psychiatry, Los Angeles, California, United States of America.
  • Elfferich P; University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America.
  • Gutierrez-Mejia I; University of California San Diego Department of Psychiatry, Division of Child and Adolescent Psychiatry, San Diego, California, United States of America.
  • Sadik J; Rady Children's Hospital of San Diego, San Diego, California, United States of America.
  • Bernstein JA; Rady Children's Institute for Genomic Medicine, San Diego, California, United States of America.
  • van Ierland Y; Department of Physiology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, United States of America.
  • Kattentidt-Mouravieva AA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Nellist M; University of California Los Angeles, Division of Medical Genetics, Department of Pediatrics, Los Angeles, California, United States of America.
  • Abramson J; University of California Los Angeles, Department of Human Genetics, Los Angeles, California, United States of America.
  • Martinez-Agosto JA; University of California Los Angeles, David Geffen School of Medicine, Los Angeles, California, United States of America.
PLoS Genet ; 17(7): e1009651, 2021 07.
Article em En | MEDLINE | ID: mdl-34197453
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina-Treonina Quinases TOR / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Serina-Treonina Quinases TOR / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article