A deep intronic SMARCB1 variant associated with schwannomatosis

Clin Genet. 2020 Feb;97(2):376-377. doi: 10.1111/cge.13637. Epub 2019 Sep 9.

¹ NW Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
² Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
³ Concord Clinical School, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, Australia.
⁴ Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
⁵ Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
⁶ Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁷ Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of Los Andes, Mérida, Venezuela.

No abstract available

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