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Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006242. doi: 10.1101/mcs.a006242. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36379720
Free PMC article.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L.
Markovitz R, et al. Among authors: manberg s.
Am J Med Genet A. 2020 May;182(5):1167-1176. doi: 10.1002/ajmg.a.61544. Epub 2020 Mar 17.
Am J Med Genet A. 2020.
PMID: 32181591
Free PMC article.
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