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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Many patients suffering from developmental disorders harbor submicroscopic deletions or duplications that, by affecting the copy number of dosage-sensitive genes or disrupting normal gene expression, lead to disease. However, many aberrations are novel or extremely rare, making clinical interpretati...
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Hauptverfasser: | , , , , , , , , , |
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Format: | Artigo |
Sprache: | Inglês |
Veröffentlicht: |
Elsevier
2009
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Schlagworte: | |
Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2667985/ https://ncbi.nlm.nih.gov/pubmed/19344873 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.03.010 |
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