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MIRAGE
progressive myoclonus epilepsy 1A

Summary
Synonym
  • EPM1A
Definition
An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3.
Super Class
Unverricht-Lundborg syndrome autosomal recessive disease
Disease Ontology
DOID:0111452
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1476 CSTB cystatin B
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P04080 Cystatin-B
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025