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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)
Copy number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormalities. In the decade that this analysis has been i...
সংরক্ষণ করুন:
| প্রকাশিত: | Genet Med |
|---|---|
| প্রধান লেখক: | , , , , , , , , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
2019
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7313390/ https://ncbi.nlm.nih.gov/pubmed/31690835 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0686-8 |
| ট্যাগগুলো: |
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