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: ENG: 587G>A; Trp196Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Frontiers In Molecular Biosciences

Gariballa, Nesrin N; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: HHT1: 587G>A

PubMed Link: 33195419

Variant Present in the following documents:

• Main text
• fmolb-07-575608.pdf

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Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology

Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL

Publication Date: 2013-04

Variant appearance in text: ENG: 587G>A

PubMed Link: 23801935

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text:

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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