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Characteristics of rare and private deletions identified in phenotypically normal individuals
Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not alwa...
Tallennettuna:
| Julkaisussa: | Hum Genome Var |
|---|---|
| Päätekijät: | , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2017
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5597573/ https://ncbi.nlm.nih.gov/pubmed/28912957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.37 |
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