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Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai, Monica H N; Gardner, Alison; Redpath, Laura; Mattiske, Tessa; Dearsley, Oliver; Shaw, Marie; Vulto-van Silfhout, Anneke T; Pfundt, Rolph; Dixon, Joanne; McGaughran, Julie; Pérez-Jurado, Luis A; Gécz, Jozef; Shoubridge, Cheryl.
Afiliación
  • Thai MHN; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • Gardner A; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Redpath L; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • Mattiske T; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • Dearsley O; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Shaw M; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • Vulto-van Silfhout AT; Robinson Research Institute, University of Adelaide, Adelaide, South Australia, Australia.
  • Pfundt R; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • Dixon J; Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia.
  • McGaughran J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Pérez-Jurado LA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gécz J; Genetic Health Service NZ-South Island Hub, Christchurch Hospital, Christchurch, New Zealand.
  • Shoubridge C; Genetic Health Queensland, MNHHS, Brisbane and School of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Hum Mutat ; 41(8): 1407-1424, 2020 08.
Article en En | MEDLINE | ID: mdl-32383243
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas de Homeodominio / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Factores de Transcripción / Proteínas de Homeodominio / Epilepsia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Australia