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Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

Chang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.104, no.3, pp.439 - 453, 2019-03

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