लोड हो रहा है...
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...
में बचाया:
| में प्रकाशित: | Eur J Hum Genet |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Nature Publishing Group
2016
|
| विषय: | |
| ऑनलाइन पहुंच: | 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 |
| टैग : |
टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!
|