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Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, Melissa Loscalzo, Dafne D. G. Horovitz, Ann Snowden, Ann Moser, Steve Steinberg and Nancy Braverman Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 Human Mutation 33

Article first published online: 31 OCT 2011 | DOI: 10.1002/humu.21623

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