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Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

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Description scientific article published on 27 November 2019
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author: Jennifer E. Posey  Lianlei Wang  Shengru Wang  Zhenlei Liu  Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study  Yuchen Niu  Xin-Zhuang Yang  Zihui Yan  Bintao Qiu  Yuzhi Zuo  Mao Lin  Zeynep Coban Akdemir  James R. Lupski  Nan Wu 

Publication date November 27, 2019
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