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: PTEN: 87T>A; Tyr29Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: PTEN: 87T>A; Y29*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis.

Case Reports In Pediatrics

Mauro, Angela A; Omoyinmi, Ebun E; Sebire, Neil James NJ; Barnicoat, Angela A; Brogan, Paul P

Publication Date: 2017

Variant appearance in text: PTEN: 87T>A

PubMed Link: 28523199

Variant Present in the following documents:

• Main text
• CRIPE2017-9682803.pdf

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Cowden's syndrome with immunodeficiency.

Journal Of Medical Genetics

Browning, Michael J MJ; Chandra, Anita A; Carbonaro, Valentina V; Okkenhaug, Klaus K; Barwell, Julian J

Publication Date: 2015-12

Variant appearance in text: PTEN: 87T>A

PubMed Link: 26246517

Variant Present in the following documents:

• Main text

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