Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Cold Spring Harbor Molecular Case Studies
Kaiwar, Charu C; Zimmermann, Michael T MT; Ferber, Matthew J MJ; Niu, Zhiyv Z; Urrutia, Raul A RA; Klee, Eric W EW; Babovic-Vuksanovic, Dusica D