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W. A. Paznekas, B. Karczeski, S. Vermeer, R. B. Lowry, M. Delatycki, F. Laurence, P. A. Koivisto, L. van Maldergem, S. A. Boyadjiev, J. N. Bodurtha and E. W. Jabs, “GJA1 Mutations, Variants, and Connexin 43 Dysfunction as It Relates to the Oculodentodigital Dysplasia Phenotype,” Human Mutation, Vol. 30, No. 5, 2009, pp. 724-733. doi:10.1002/humu.20958
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