Varaico: Literature-Extracted Genetic Variants

Gene:CST3
Variant:p.Q114*
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CST3

NM_000099.4:p.Q114*

Associated Papers

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

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.

Jauss RT et al.

Genes, 2022

36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
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