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SET de novo frameshift variants associated with developmental delay and intellectual disabilities
Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified three individuals with de novo frameshift variants in the Suppressor of Variegation, Enhancer of Zeste, and Trithorax (SET) gene. Variants in the SET gene have not previously been recognised to b...
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| 出版年: | Eur J Hum Genet |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2018
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6117329/ https://ncbi.nlm.nih.gov/pubmed/29907757 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0199-y |
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