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bioninformatics
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Select article: Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
Open access
Research article
First published September 8, 2023
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
Stephanie Kleinle,
Veronika Scholz,
Anna Benet-Pagés
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Journal of Neuromuscular Diseases
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