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Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations
BACKGROUND: RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions. RESULTS: We identified 14 copy number variants (CNV) in...
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| 主要作者: | |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2013
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3766065/ https://ncbi.nlm.nih.gov/pubmed/23822903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-26 |
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