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Novel VAC14 variants identified in two Chinese siblings with childhood‐onset striatonigral degeneration

BACKGROUND: VAC14 is a component of a trimolecular complex that tightly regulates the level of phosphatidylinositol 3,5‐bisphosphate [PI (3,5) P2]. VAC14 pathogenic variants cause prominent vacuolation of neurons in basal ganglia of patients with childhood‐onset striatonigral degeneration (SNDC). ME...

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Detalles Bibliográficos
Autores principales:	Liao, Shuang, Chen, Tingting, Dai, Ying, Wang, Yanqin, Wu, Fangrui, Zhong, Min
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005630/ https://www.ncbi.nlm.nih.gov/pubmed/31876398 http://dx.doi.org/10.1002/mgg3.1101

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