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Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing
scientific article published on 26 April 2020
Author/s
author: Ivana Jedličková, Anna Přistoupilová, Lenka Noskova, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Peter Solár, Stanislav Kmoch
Work details
Publication date
April 26, 2020
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Language
English
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