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: MECP2: 500T>C; Phe167Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs28934905

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

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Rett syndrome - biological pathways leading from MECP2 to disorder phenotypes.

Orphanet Journal Of Rare Diseases

Ehrhart, Friederike F; Coort, Susan L M SL; Cirillo, Elisa E; Smeets, Eric E; Evelo, Chris T CT; Curfs, Leopold M G LM

Publication Date: 2016-11-25

Variant appearance in text: rs28934905

PubMed Link: 27884167

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28934905

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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