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A deep intronic SMARCB1 variant associated with schwannomatosis

Miriam J. Smith, Naomi L. Bowers, Catherine Banks, Rosanna Coates-Brown, Katrina A. Morris, Lisa Ewans, Meredith Wilson, Jason Pinner, Sanjeev S. Bhaskar, Francisco Cammarata-Scalisi, Andrew J. Wallace, Daffyd Gareth R. Evans

CLINICAL GENETICS(2020)

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