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: 7409G>A; Cys2470Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection.

Frontiers In Genetics

Pan, Meichen M; Li, Lianjie L; Li, Zehao Z; Chen, Shu S; Li, Zongzhe Z; Wang, Yuning Y; He, Henghui H; Lin, Lihua L; Wang, Haihao H; Liu, Qian Q

Publication Date: 2022

Variant appearance in text: FBN1: 7409G>A; Cys2470Tyr

PubMed Link: 35154271

Variant Present in the following documents:

• Main text
• fgene-13-778806.pdf

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Scoliosis in Shprintzen-Goldberg Syndrome.

Case Reports In Orthopedics

Takano, Hiromitsu H; Yonezawa, Ikuho I; Okuda, Takatoshi T; Kajihara, Hajime H; Kaneko, Kazuo K

Publication Date: 2020

Variant appearance in text: FBN1: 7409G>A; Cys2470Tyr

PubMed Link: 33299628

Variant Present in the following documents:

• CRIOR2020-8857463.pdf

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Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

Molecular Medicine Reports

Ma, Mingjia M; Li, Zongzhe Z; Wang, Dao Wen DW; Wei, Xiang X

Publication Date: 2016-07

Variant appearance in text: FBN1: 7409G>A; Cys2470Tyr

PubMed Link: 27175573

Variant Present in the following documents:

• mmr-14-01-0151.pdf

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The c.7409G>A (p.Cys2470Tyr) Variant of FBN1: Phenotypic Variability across Three Generations.

Molecular Syndromology

Potter, K J KJ; Creighton, S S; Armstrong, L L; Eydoux, P P; Duncan, W W; Penny, D J DJ; Fan, Y Y; Gibson, W T WT

Publication Date: 2013-03

Variant appearance in text: FBN1: 7409G>A; Cys2470Tyr

PubMed Link: 23653584

Variant Present in the following documents:

• Main text

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