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

Gorde:
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2023-01-01
Saila:Genetics in Medicine Open
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S2949774423006325
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