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Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests

Tiffany Pang,Fernanda Leal-Pardinas,Rebecca Truty,Dianalee A. McKnight,Britt Johnson,Ana Morales,Sara L. Bristow,Emanuela Izzo,Jessica Cohen-Pfeffer,Raman Sankar,Sookyong Koh,Elaine C. Wirrell,John J. Millichap,Swaroop Aradhya

Molecular Genetics and Metabolism（2021）

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cln2 disease diagnosis,pediatric epilepsy,cln2 disease,gene panel testing program
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