The association between VRK1 (VRK Serine/Threonine Kinase 1) and Congenital Pontocerebellar Hypoplasia Type 1 is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources2
Clinical variants29
Symptoms0
Compounds0
Trials0
Publications0
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.