Missense ABI2 variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities.

2025
https://researcherprofiles.org/profile/623964011
40475134
Argilli E, Yang C, Le C, Elashoff AM, Parks KC, Bakker C, Skotko BG, Pinnell N, Mahida S, Olson H, Amburgey K, Dowling JJ, Kalsner L, Rajan DS, Munro C, Barnett C, Byrne AB, England EM, Aref-Eshghi E, Mullegama SV, Morrow MM, George E, Sherr EH