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1 protein found in SwissVar (2 variants)

with gene/protein name Q13057

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)
Q13057 COASY_HUMAN neurodegeneration with brain iron accumulation 6 p.Ala214Val

Q13057 COASY_HUMAN pontocerebellar hypoplasia 12