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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...
Uloženo v:
| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7005630/ https://ncbi.nlm.nih.gov/pubmed/31876398 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1101 |
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