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Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia.
Park, Joohyun; Reilaender, Annemarie; Petry-Schmelzer, Jan N; Stöbe, Petra; Cordts, Isabell; Harmuth, Florian; Rautenberg, Maren; Woerz, Sarah E; Demidov, German; Sturm, Marc; Ossowski, Stephan; Schwaibold, Eva M C; Wunderlich, Gilbert; Paus, Sebastian; Saft, Carsten; Haack, Tobias B.
Afiliación
  • Park J; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Reilaender A; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Petry-Schmelzer JN; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Stöbe P; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Cordts I; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Harmuth F; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Rautenberg M; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Woerz SE; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Demidov G; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Sturm M; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Ossowski S; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Schwaibold EMC; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Wunderlich G; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Paus S; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Saft C; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
  • Haack TB; Institute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and Univer
Neurol Genet ; 8(1): e644, 2022 Feb.
Article en En | MEDLINE | ID: mdl-34901436
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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2022 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2022 Tipo del documento: Article