A deep intronic SMARCB1 variant associated with schwannomatosis.
Miriam Jane SmithNaomi L BowersCatherine BanksRosanna Coates-BrownKatrina A MorrisLisa EwansMeredith WilsonJason PinnerSanjeev S BhaskarFrancisco Cammarata-ScalisiAndrew J WallaceDaffyd Gareth R EvansPublished in: Clinical genetics (2019)
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