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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299681/ https://www.ncbi.nlm.nih.gov/pubmed/25606056 http://dx.doi.org/10.1186/s13039-014-0100-9 |