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Genotype–Phenotype Correlations in Angelman Syndrome
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy...
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| Опубликовано в: : | Genes (Basel) |
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| Главные авторы: | , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2021
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8304328/ https://ncbi.nlm.nih.gov/pubmed/34203304 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12070987 |
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