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: MPL: 823C>A; Pro275Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The thrombopoietin receptor: revisiting the master regulator of platelet production.

Platelets

Hitchcock, Ian S IS; Hafer, Maximillian M; Sangkhae, Veena V; Tucker, Julie A JA

Publication Date: 2021-08-18

Variant appearance in text: MPL: P275T

PubMed Link: 34097561

Variant Present in the following documents:

• Main text
• IPLT_32_1925102.pdf

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CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.

Haematologica

Germeshausen, Manuela M; Ballmaier, Matthias M

Publication Date: 2021-09-01

Variant appearance in text: MPL: 823C>A; Pro275Thr; rs28928908

PubMed Link: 32703794

Variant Present in the following documents:

• Main text
• 1062439.pdf
• 2020_257972_GERMESHAUSEN_SUPPL.pdf

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