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P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Ting Wen,Hayley Reynolds,Andrew Farrell,Barry Moore,Steven Boyden,Thomas Nicholas,Shawn Rynearson,Carson Holt,Christine Miller,Katherine Noble,Dawn Bentley,Rachel Palmquist,Betsy Ostrander, Stephanie Manberg,Joshua Bonkowsky,Brian Shayota,Sabrina Malone-Jenkins,Pinar Bayrak-Toydemir, Rong Mao

Genetics in Medicine Open（2023）

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Key words
novo snap25 variant,congenital,syndrome
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