Загрузка...
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations
BACKGROUND: RBFOX1 is an important splicing factor regulating developmental and tissue-specific alternative splicing in heart, muscle, and neuronal tissues. Constitutional genetic defects in RBFOX1 are implicated in multiple medical conditions. RESULTS: We identified 14 copy number variants (CNV) in...
Сохранить в:
| Главный автор: | |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2013
|
| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3766065/ https://ncbi.nlm.nih.gov/pubmed/23822903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-6-26 |
| Метки: |
Добавить метку
Нет меток, Требуется 1-ая метка записи!
|