Varaico: Literature-Extracted Genetic Variants

Gene:SV2C
Variant:p.D543N
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SV2C

NM_014979.4:p.D543N

Associated Papers

Rare SV2C coding variants in Parkinson's disease risk.

Chang CH et al.

Journal of Parkinson's Disease, 2025

Synaptic Vesicle Glycoprotein 2C: a role in Parkinson's disease.

Chang CH et al.

Frontiers in Cellular Neuroscience, 2024

Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.

Willems SM et al.

Wellcome Open Research, 2023

Replication of a Novel Parkinson's Locus in a European Ancestry Population.

Grover S et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

Primary resistance of human patients to botulinum neurotoxins A and B.

Pirazzini M et al.

Annals of Clinical and Translational Neurology, 2018

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ et al.

Science Translational Medicine, 2012

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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."