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Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki–Lupski syndrome diagnosis
The identification of structural variants of uncertain clinical significance is increasing; however, studies delineating the functional consequence of these variants in the pathogenicity of phenotypic features are lacking. Understanding the consequence of structural variants such as copy number alte...
Sparad:
| I publikationen: | Mol Cytogenet |
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| Huvudupphovsmän: | , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BioMed Central
2015
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4594966/ https://ncbi.nlm.nih.gov/pubmed/26442755 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0179-7 |
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