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: 6004C>T; Pro2002Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific Reports

Nayak, Shalini S SS; Schneeberger, Pauline E PE; Patil, Siddaramappa J SJ; Arun, Karegowda M KM; Suresh, Pujar V PV; Kiran, Viralam S VS; Siddaiah, Sateesh S; Maiya, Shreesha S; Venkatachalagupta, Shrikanth K SK; Kausthubham, Neethukrishna N; Kortüm, Fanny F; Rau, Isabella I; Wey-Fabrizius, Alexandra A; Van Den Heuvel, Lotte L; Meester, Josephina J; Van Laer, Lut L; Shukla, Anju A; Loeys, Bart B; Girisha, Katta M KM; Kutsche, Kerstin K

Publication Date: 2021-01-12

Variant appearance in text: FBN1: Pro2002Ser

PubMed Link: 33436942

Variant Present in the following documents:

• Main text
• 41598_2020_Article_80755.pdf

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