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Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability
BACKGROUND: The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing. Since short read massive parallel sequencing approaches do not allow the detection of larger tand...
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| Veröffentlicht in: | BMC Med Genomics |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6299999/ https://ncbi.nlm.nih.gov/pubmed/30567555 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0446-7 |
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