Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within a small CNV whose copy number loss or gain underlies a specific phenotype might be achieved reasonably rapidly for single patients. Identifying the biological processes that ar...
| Main Authors: | , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2011
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