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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
We previously reported on nonrecurrent overlapping duplications at Xp11.22 in individuals with nonsyndromic intellectual disability (ID) harboring HSD17B10, HUWE1, and the microRNAs miR-98 and let-7f-2 in the smallest region of overlap. Here, we describe six additional individuals with nonsyndromic...
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| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Elsevier
2012
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3415555/ https://ncbi.nlm.nih.gov/pubmed/22840365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.06.010 |
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