Publications:

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

Molecular Genetics & Genomic Medicine

Lin, Mao M; Liu, Zhenlei Z; Liu, Gang G; Zhao, Sen S; Li, Chao C; Chen, Weisheng W; Coban Akdemir, Zeynep Z; Lin, Jiachen J; Song, Xiaofei X; Wang, Shengru S; Xu, Qiming Q; Zhao, Yanxue Y; Wang, Lianlei L; Zhang, Yuanqiang Y; Yan, Zihui Z; Liu, Sen S; Liu, Jiaqi J; Chen, Yixin Y; Zuo, Yuzhi Y; Yang, Xu X; Sun, Tianshu T; Yang, Xin-Zhuang XZ; Niu, Yuchen Y; Li, Xiaoxin X; You, Wesley W; Qiu, Bintao B; Ding, Chen C; Liu, Pengfei P; Zhang, Shuyang S; Carvalho, Claudia M B CMB; Posey, Jennifer E JE; Qiu, Guixing G; , ; Lupski, James R JR; Wu, Zhihong Z; Zhang, Jianguo J; Wu, Nan N

Publication Date: 2020-01

Variant appearance in text: FBN1: Cys1631Gly

PubMed Link: 31774634

Variant Present in the following documents:

• Main text
• MGG3-8-e1023.pdf

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