Publications:

Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection.

Molecular Genetics & Genomic Medicine

Xu, Shijun S; Li, Lei L; Fu, Yuwei Y; Wang, Xin X; Sun, Hairui H; Wang, Jianbin J; Han, Lu L; Wu, Zining Z; Liu, Yongmin Y; Zhu, Junming J; Sun, Lizhong L; Lan, Feng F; He, Yihua Y; Zhang, Hongjia H

Publication Date: 2020-01

Variant appearance in text: FBN1: C111Y

PubMed Link: 31830381

Variant Present in the following documents:

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Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports

Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J

Publication Date: 2015-08-14

Variant appearance in text: FBN1: 332G>A; Cys111Tyr

PubMed Link: 26272055

Variant Present in the following documents:

• srep13115-s1.pdf

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: FBN1: C111Y

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

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