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Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
Chromosomal aberrations include translocations, deletions, duplications, inversions, aneuploidies and complex rearrangements. They underlie genetic disease in roughly 15% of patients with multiple congenital abnormalities and/or mental retardation (MCA/MR). In genetic diagnostics, the pathogenicity...
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| Published in: | Mol Cytogenet |
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| Main Authors: | , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2014
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4299681/ https://ncbi.nlm.nih.gov/pubmed/25606056 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0100-9 |
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