SWISSVAR
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1 protein found in SwissVar (4 variants)

with gene/protein name O95363

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)
O95363 SYFM_HUMAN combined oxidative phosphorylation deficiency 14 p.Tyr144Cys
p.Ile329Thr
p.Asp391Val



O95363 SYFM_HUMAN spastic paraplegia 77, autosomal recessive p.Asp142Tyr