Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
| Autor: | Bagabir, Hala Abubaker1, Abdulkareem, Angham Abdulrhman2, Muthaffar, Osama Yousef3, Shirah, Bader H.4, Naseer, Muhammad Imran5 mimrannaseer@yahoo.com |
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| Zdroj: | Pakistan Journal of Medical Sciences. Nov2024, Vol. 40 Issue 10, p2243-2250. 8p. |
| Databáze: | Academic Search Ultimate |
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