What is caused by loss-of-function variants in BCAS3?
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis.