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Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
PURPOSE: To maximize the discovery of potentially pathogenic variants to better understand the diagnostic utility of genome sequencing (GS) and to assess how the presence of multiple risk events might affect the phenotypic severity in autism spectrum disorders (ASD). METHODS: GS was applied to 180 s...
Kaydedildi:
| Yayımlandı: | Genet Med |
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| Asıl Yazarlar: | , , , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6546556/ https://ncbi.nlm.nih.gov/pubmed/30504930 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0380-2 |
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