A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency

by Bennetts, B., Bhattacharya, K., Bratkovic, D., de Jong, G., Fazio, T., Fisk, K., Halligan, R., Hertzog, A., Selvanathan, A., Tolun, A.A
Published 2022