Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Abstract Background Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms with single nucleotide polymorphism probes can detect large homozygous r...
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| Автори: | , , , , , , |
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| Формат: | Книга |
| Опубліковано: |
BMC,
2018-03-01T00:00:00Z.
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A1234.567 |
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