Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay
Abstract Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patien...
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| Главные авторы: | , , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BMC
2024-09-01
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| Серии: | BMC Medical Genomics |
| Предметы: | |
| Online-ссылка: | https://doi.org/10.1186/s12920-024-02007-1 |
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