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De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants w...
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| Publicado en: | Eur J Hum Genet |
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| Autores principales: | , , , , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5117939/ https://ncbi.nlm.nih.gov/pubmed/27436265 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.90 |
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