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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Cold Spring Harbor Laboratory Press
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3083082/ https://ncbi.nlm.nih.gov/pubmed/21487076 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.117143.110 |
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