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A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
BACKGROUND: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys(2)His(2) zinc finger transcription factor, is essential for the development of immune and neural systems. METHODS: Herein, we desc...
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| 發表在: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732278/ https://ncbi.nlm.nih.gov/pubmed/31347296 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.897 |
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