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An In-Frame Deletion in BICD2 Associated with a Non-Progressive Form of SMALED

Aurelien Trimouille,Emilie Obre,Guillaume Banneau,Alexandra Durr,Giovanni Stevanin,Fabienne Clot,Perrine Pennamen,Jean-Thomas Perez, Clemence Bailly-Scappaticci,Marie Rouanet,Claire Delleci,Guilhem Sole,Stephane Mathis,Cyril Goizet

Clinical Neurology and Neurosurgery（2018）

引用 9|浏览33
关键词
Neuromuscular disorder,BICD2,SMALED2,Panel sequencing
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