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

Document Type

Article

Author

Reynolds, H.M.; Wen, T.; Mao, R.; Bayrak-Toydemir, P.; Miller, C.; Noble, K.; Farrell, A.; Moore, B.; Boyden, S.E.; Nicholas, T.J.; Rynearson, S.; Holt, C.; Bentley, D.; Jenkins, S.M.; Palmquist, R.; Ostrander, B.; Manberg, S.; Bonkowsky, J.L.; Shayota, B.J.

Source

In: Cold Spring Harbor Molecular Case Studies. (Cold Spring Harbor Molecular Case Studies, December 2022, 8(7))

Subject

Language

English

ISSN

23732873

Online Access

Web of Science JCR 저널정보 Scopus Find it@PNU

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