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Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challengi...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2014
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4135405/ https://ncbi.nlm.nih.gov/pubmed/24424126 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.291 |
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