Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
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Demidov G, et al.
NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6.
NPJ Genom Med. 2024.
PMID: 39461972
Free PMC article.