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Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.1009976
Abstract: Mutations in the gene for human stefin B (cystatin B) cause progressive myoclonic epilepsy type 1 (EPM1), a neurodegenerative disorder. The most common change is dodecamer repeats in the promoter region of the gene, though…
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Keywords:
pathology;
human stefin;
structure folding;
folding aggregation ... See more keywords