The association between CFAP52 (Cilia And Flagella Associated Protein 52) and Visceral Heterotaxy 5 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.
Sources2
Clinical variants57
Symptoms0
Compounds0
Trials0
Publications3
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.