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Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.
Mehinovic, Elvisa; Gray, Teddi; Campbell, Meghan; Ekholm, Jenny; Wenger, Aaron; Rowell, William; Grudo, Ari; Grimwood, Jane; Korlach, Jonas; Gurnett, Christina; Constantino, John N; Turner, Tychele N.
Affiliation
  • Mehinovic E; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Gray T; Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Campbell M; Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Ekholm J; Pacific Biosciences, Menlo Park, California, USA.
  • Wenger A; Pacific Biosciences, Menlo Park, California, USA.
  • Rowell W; Pacific Biosciences, Menlo Park, California, USA.
  • Grudo A; Pacific Biosciences, Menlo Park, California, USA.
  • Grimwood J; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
  • Korlach J; Pacific Biosciences, Menlo Park, California, USA.
  • Gurnett C; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Constantino JN; Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, USA.
Am J Med Genet A ; 188(7): 2071-2081, 2022 07.
Article in En | MEDLINE | ID: mdl-35366058
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Epilepsy / Shaw Potassium Channels Type of study: Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Epilepsy / Shaw Potassium Channels Type of study: Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States