The association between SBF2 (SET Binding Factor 2) and Charcot-Marie-Tooth Disease Type 4 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources2
Clinical variants1,305
Symptoms0
Compounds0
Trials0
Publications8
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.