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Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
BACKGROUND: Whole-exome sequencing can provide insight into the relationship between observed clinical phenotypes and underlying genotypes. METHODS: We conducted a retrospective analysis of data from a series of 7374 consecutive unrelated patients who had been referred to a clinical diagnostic labor...
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出版年: | N Engl J Med |
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主要な著者: | , , , , , , , , , , , , , , , , , , , , |
フォーマット: | Artigo |
言語: | Inglês |
出版事項: |
2016
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主題: | |
オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5335876/ https://ncbi.nlm.nih.gov/pubmed/27959697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa1516767 |
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