Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations

R. A. Kumar, S. Leach, R. Bonaguro, J. Chen, D. W. Yokom, B. S. Abrahams, L. Seaver, C. E. Schwartz, W. Dobyns, A. Brooks-Wilson, E. M. Simpson

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