The association between EXOSC5 (Exosome Component 5) and Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.
Sources4
Clinical variants9
Symptoms91
Compounds0
Trials0
Publications4
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
