دورية أكاديمية
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
| العنوان: | A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C |
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| المؤلفون: | Zaki, Maha S.Aff1, IDs10038023012074_cor1, Abdel-Ghafar, Sherif F., Abdel-Hamid, Mohamed S.Aff2, IDs10038023012074_cor3 |
| المصدر: | Journal of Human Genetics. 69(2):79-84 |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 14345161 1435232X |
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| DOI: | 10.1038/s10038-023-01207-4 |