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: 4049G>A; Cys1350Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1.

Frontiers In Genetics

Liu, Xin X; Liu, Kaiqing K; Nie, Danyao D; Zhang, Jing J; Zhang, Liyun L; Liu, Xinhua X; Wang, Jiantao J

Publication Date: 2022

Variant appearance in text: FBN1: 4049G>A; C1350Y

PubMed Link: 36035136

Variant Present in the following documents:

• Main text
• fgene-13-928683.pdf

View BVdb publication page

Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports

Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R

Publication Date: 2017-08-30

Variant appearance in text: FBN1: 4049G>A; Cys1350Tyr

PubMed Link: 28855619

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9785.pdf

View BVdb publication page