Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia

BACKGROUND AND OBJECTIVES: Our objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare VPS16 variants observed in patients with dystonia and pa...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656243/
https://www.ncbi.nlm.nih.gov/pubmed/34901436
http://dx.doi.org/10.1212/NXG.0000000000000644

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8656243/
https://www.ncbi.nlm.nih.gov/pubmed/34901436
http://dx.doi.org/10.1212/NXG.0000000000000644

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