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J."},{"key":"key\n\t\t\t\t20180917102152_ref67","doi-asserted-by":"crossref","first-page":"2321","DOI":"10.1101\/gad.274403","article-title":"Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing","volume":"17","author":"Pillai","year":"2003","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20180917102152_ref68","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","article-title":"An SMN-dependent U12 splicing event essential for motor circuit function","volume":"151","author":"Lotti","year":"2012","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180917102152_ref69","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","article-title":"SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing","volume":"133","author":"Zhang","year":"2008","journal-title":"Cell"},{"key":"key\n\t\t\t\t20180917102152_ref70","doi-asserted-by":"crossref","first-page":"19348","DOI":"10.1073\/pnas.1319280110","article-title":"Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy","volume":"110","author":"Zhang","year":"2013","journal-title":"Proc. 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