A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.
Malena Daich VarelaFabiana Louise MottaAndrew R WebsterGavin ArnoPublished in: Ophthalmic genetics (2021)
Exon 31 skipping in VPS13B may lead to a hypomorphic change, with partial gene function and an incomplete, mild Cohen syndrome-like phenotype.