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: 7801C>T; Gln2601Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites

Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M

Publication Date: 2021-11-27

Variant appearance in text: FBN1: 7801C>T; Q2601*

PubMed Link: 34940564

Variant Present in the following documents:

• Main text
• metabolites-11-00805.pdf

View BVdb publication page

Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome.

Metabolites

Bartenbach, Lisa L; Karall, Thomas T; Koch, Jakob J; Keller, Markus Andreas MA; Oberacher, Herbert H; Scholl-Bürgi, Sabine S; Karall, Daniela D; Oemer, Gregor G; Baumgartner, Daniela D; Meinel, Katharina K; Aly, Safwat S; Odri-Komazec, Irena I; Geiger, Ralf R; Michel, Miriam M

Publication Date: 2021-11-27

Variant appearance in text: FBN1: 7801C>T; Q2601*

PubMed Link: 34940564

Variant Present in the following documents:

• Main text
• metabolites-11-00805.pdf

View BVdb publication page