The association between ATP6V0C (ATPase H+ Transporting V0 Subunit C) and Epilepsy, Early-Onset, 3, With Or Without Developmental Delay is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.
Sources3
Clinical variants6
Symptoms63
Compounds0
Trials0
Publications2
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
