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1 protein found in SwissVar (2 variants)

with gene/protein name Q13472

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)
Q13472 TOP3A_HUMAN microcephaly, growth restriction, and increased sister chromatid exchange 2 p.Ala176Val

Q13472 TOP3A_HUMAN progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 p.Met100Val