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Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Thiffault, Isabelle; Atherton, Andrea; Heese, Bryce A; T Abdelmoity, Ahmed; Pawar, Kailash; Farrow, Emily; Zellmer, Lee; Miller, Neil; Soden, Sarah; Saunders, Carol.
Afiliación
  • Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri 64108, USA.
  • Atherton A; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
  • Heese BA; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA.
  • T Abdelmoity A; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
  • Pawar K; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
  • Farrow E; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
  • Zellmer L; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
  • Miller N; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri 64108, USA.
  • Soden S; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri 64108, USA.
  • Saunders C; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, Missouri 64108, USA.
Cold Spring Harb Mol Case Stud ; 6(3)2020 06.
Article en En | MEDLINE | ID: mdl-32358097
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Trastorno del Espectro Autista / Proteínas de Microfilamentos Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Predisposición Genética a la Enfermedad / Estudio de Asociación del Genoma Completo / Trastorno del Espectro Autista / Proteínas de Microfilamentos Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Cold Spring Harb Mol Case Stud Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos