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[DOI] [PMC free article] [PubMed] [Google Scholar] 224.Hu C, Hoene M, Plomgaard P, Hansen JS, Zhao X, Li J, et al

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elegans strains carrying the variants equivalent to those identified in our patients: gbh-1(D72G) for p.Asp59Gly, gbh-1(G283R) for p.Gly263Arg, and gbh-1(G247Vfs6) for p.Gly227Valfs*6