Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.L94Q
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CST3

NM_000099.4:p.L94Q

Associated Papers

Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3.

Orimo K et al.

Journal of the Neurological Sciences, 2025

End-truncated CST3 causes severe psychiatric-like symptoms associated with migraine and progressive young-onset dementia.

Baille G et al.

Journal of Neurology, 2024

Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.

Bergner CG et al.

Brain : a Journal of Neurology, 2024

Chinese patients with adult onset leukodystrophy caused by CST3 variants.

Zhang Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G et al.

Brain : a Journal of Neurology, 2023

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Tan RYY et al.

Neurology, 2019

Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.

Taipale M

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019

Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.

Nguyen A et al.

Plos One, 2016

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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."