Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing
Abstract We reported the use of PCR-free nanopore long-read DNA sequencing to identify the disruption of ACAN gene function subsequent to apparently balanced chromosomal translocation involving chromosomes 15 and 20. This low-depth whole genome long-read sequencing has yielded 12.2-Gbp sequencing re...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer
2025-08-01
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| Schriftenreihe: | Journal of Rare Diseases |
| Schlagworte: | |
| Online-Zugang: | https://doi.org/10.1007/s44162-025-00111-z |
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