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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1 by Gutowski Nicholas J, Pott Jan WR, Traboulsi Elias I, Yazdani Ahmad, Hunter David G, Geraghty Michael T, Lyons Christopher, Armstrong Linlea, Fredrick Douglas, Dragan Laryssa, Andrews Caroline, Chan Wai-Man, Ellard Sian, Young Elizabeth, Hanisch Frank, Koc Feray, Schnall Bruce, Engle Elizabeth C
Published 2007-05-01
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HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1[superscript −/−] Mice by Webb, Bryn D., Shaaban, Sherin, Gaspar, Harald, Cunha, Luis F., Schubert, Christian R., Hao, Ke, Robson, Caroline D., Chan, Wai-Man, Andrews, Caroline, MacKinnon, Sarah, Oystreck, Darren T., Hunter, David G., Iacovelli, Anthony J., Ye, Xiaoqian, Camminady, Anne, Engle, Elizabeth C., Jabs, Ethylin Wang, Schubert, Christian R.
Published 2014
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