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1 protein found in SwissVar (1 variants)

with gene/protein name P55789

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P55789 ALR_HUMAN myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay p.Arg194His