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Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
Next-generation sequencing, such as whole-genome sequencing, whole-exome sequencing, and targeted panel sequencing have been applied for diagnosis of many genetic diseases, and are in the process of replacing the traditional methods of genetic analysis. Clinical exome sequencing (CES), which provide...
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| 出版年: | Ann Rehabil Med |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Korean Academy of Rehabilitation Medicine
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5256329/ https://ncbi.nlm.nih.gov/pubmed/28119845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5535/arm.2016.40.6.1129 |
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