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Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders
Detection of copy number variations (CNVs) is a first-tier clinical diagnostic test for children with neurodevelopmental disorders (NDD), which reveals the genetic cause of the disorder in more than 20%. These are mostly known microdeletion/microduplication syndromes, but variants of unknown clinica...
Gorde:
| Argitaratua izan da: | Sci Rep |
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| Egile Nagusiak: | , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group UK
2018
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6013431/ https://ncbi.nlm.nih.gov/pubmed/29930340 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-27824-0 |
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