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Leber congenital amaurosis 19

Summary
Definition
A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16.
Super Class
Leber congenital amaurosis
Disease Ontology
DOID:0081169
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
77593 Usp45 ubiquitin specific petidase 45
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q8K387 Ubiquitin carboxyl-terminal hydrolase 45
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International Collaboration

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 6, 2026