Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.G4W
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CSTB

NM_000100.4:p.G4W

Associated Papers

A novel c.116 - 117 del variant in Unverricht-Lundborg disease: first ULD report in large Chinese population and review of the pathogenetic variants in CSTB gene.

Miao P et al.

Acta Epileptologica, 2025

Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.

van Karnebeek CD et al.

Neurogenetics, 2021

The role of Gly-4 of human cystatin A (stefin A) in the binding of target proteinases. Characterization by kinetic and equilibrium methods of the interactions of cystatin A Gly-4 mutants with papain, cathepsin B, and cathepsin L.

Estrada S et al.

Biochemistry, 1998

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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."