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De novo NSF mutations cause early infantile epileptic encep..:

Suzuki, Hisato ; Yoshida, Takeshi ; Morisada, Naoya...
Annals of Clinical and Translational Neurology.  6 (2019)  11 - p. 2334-2339 , 2019
Link: https://doi.org/10.1002/acn3.50917