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A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
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-nucleotid...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Hum Genomics |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7501624/ https://ncbi.nlm.nih.gov/pubmed/32948248 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-020-00281-5 |
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