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The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study

Author:

Gianpaolo Cicala,Anna Capasso,Marianna Villa,Giorgia Coratti,Chiara Arpaia,Caterina Agosto,Stefania Corti,Federica Ricci,Claudio Bruno,Susan Matesanz,Brianna Gross,Daniel Guillen Mendoza,Nancy Kuntz,Janbernd Kirschner,Andreas Ziegler et al.

Publication:

EClinicalMedicine

Publisher:

Elsevier

Date:

May 2026

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