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A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability
The IQSEC2 gene is located on chromosome Xp11.22 and encodes a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases. This gene is known to have a significant role in cytoskeletal organization, dendritic spine morphology and synaptic organization. Variants in IQS...
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| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Nature Publishing Group
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4970682/ https://ncbi.nlm.nih.gov/pubmed/26733290 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.267 |
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