A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Abstract Background In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-n...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-09-01
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| Series: | Human Genomics |
| Online Access: | http://link.springer.com/article/10.1186/s40246-020-00281-5 |