Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 7342T>C; Cys2448Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: FBN1: 7342T>C; Cys2448Arg

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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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: 7342T>C; Cys2448Arg

PubMed Link: 26272055

Variant Present in the following documents:

• Main text
• srep13115-s1.pdf
• srep13115.pdf

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