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Intragenic telSMN mutations: Frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number

D. W. Parsons, P. E. McAndrew, S. T. Iannaccone, J. R. Mendell, A. H M Burghes, Thomas W. Prior

Research output: Contribution to journal › Article › peer-review

169 Scopus citations

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Medicine & Life Sciences