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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
cerebellar atrophy, visual impairment, and psychomotor retardation
Summary
- Synonym
-
- CAVIPMR
- Definition
- A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0081276
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N766 | ER membrane protein complex subunit 1 |
