Varaico: Literature-Extracted Genetic Variants

Gene:VPS41
Variant:p.K150_L151Splc
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VPS41

NM_014396.4:p.K150_L151Splc

Associated Papers

HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia.

Monfrini E et al.

Brain : a Journal of Neurology, 2021

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.

van der Welle REN et al.

Embo Molecular Medicine, 2021

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Steel D et al.

Annals of Neurology, 2020

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