SWISSVAR
Home  |  Contact

1 protein found in SwissVar (0 variants)

with gene/protein name Q96RR1

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)
Q96RR1 PEO1_HUMAN progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3
Q96RR1 PEO1_HUMAN mitochondrial dna depletion syndrome 7
Q96RR1 PEO1_HUMAN perrault syndrome 5