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Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype
BACKGROUND: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifes...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Orphanet J Rare Dis |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7788915/ https://ncbi.nlm.nih.gov/pubmed/33407644 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01648-6 |
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