Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder
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| Description | scientific article published on 23 June 2019 |
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author: Paolo Missier Hanns Lochmüller Sergi Beltran Kiran Polavarapu Peter A.C. 't Hoen Eduardo de Paula Estephan Rachel Thompson |
| Publication date | June 23, 2019 |
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