A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

  Myriam Vezain ¹ AuthorId : 130922

Author Employer institution : Institut National de Recherche en Informatique et en Automatique IdHAL : myriam-vezain

  Pascale Saugier-Veber ^{2, 1} AuthorId : 422277
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  Elisa Goina AuthorId : 11623302
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  Renaud Touraine ³ AuthorId : 235137
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  Vã©ronique Manel AuthorId : 11623303
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  Annick Toutain ⁴ AuthorId : 235134
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  Sã©verine Fehrenbach AuthorId : 11623304
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  Thierry Frã©bourg ¹ AuthorId : 11623305
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  Franco Pagani AuthorId : 11623306
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  Mario Tosi ^{5, 1} AuthorId : 670482

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  Alexandra Martins ^{6, 1, 7} AuthorId : 11514815

Author IdHAL : alexandra-martins ORCID : https://orcid.org/0000-0003-4322-8497