Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ1
Variant:p.D730A
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SYNJ1

NM_203446.3:p.D730A

Associated Papers

Parkinson's disease gene, Synaptojanin1, dysregulates the surface maintenance of the dopamine transporter.

Saenz J et al.

Npj Parkinson's Disease, 2024

Parkinson's disease gene, Synaptojanin1, dysregulates the surface maintenance of the dopamine transporter.

Saenz J et al.

Research Square, 2024

Mini-review: Synaptojanin 1 and its implications in membrane trafficking.

Choudhry H et al.

Neuroscience Letters, 2021

Computational analysis of functional SNPs in Alzheimer's disease-associated endocytosis genes.

Tey HJ et al.

Peerj, 2019

The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals.

Mani M et al.

Neuron, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."