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- A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia2021 | 1. lékařská fakulta
- Evolutionary Conserved Cysteines Function as cis-Acting Regulators of Arabidopsis PIN-FORMED 2 Distribution2017 | Ústřední knihovna, Přírodovědecká fakulta
- Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency2012 | 1. lékařská fakulta
- SWIP mediates retromer-independent membrane recruitment of the WASH complex2023 | Přírodovědecká fakulta
- Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis2020 | 1. lékařská fakulta
- Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities2020 | 1. lékařská fakulta