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AB003. Prevalence of copy number and structural variants across Mendelian disorders
BACKGROUND: Exonic copy number variants (CNVs) contribute to disease, but their prevalence is poorly understood. METHODS: We applied a next-generation sequencing method to simultaneously detect single-nucleotide variants and small indels (SNVs) as well as intragenic CNVs in a large population underg...
Gorde:
| Argitaratua izan da: | Ann Transl Med |
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| Egile Nagusiak: | , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
AME Publishing Company
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5641762/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s003 |
| Etiketak: |
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