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: 3290G>A; Cys1097Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Orphanet Journal Of Rare Diseases

Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F

Publication Date: 2018-01-22

Variant appearance in text: FBN1: Cys1097Tyr

PubMed Link: 29357934

Variant Present in the following documents:

• Main text
• 13023_2017_Article_754.pdf

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