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: ATM: 3102T>G; Tyr1034Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects.

Journal Of Clinical Immunology

Fang, Mingyan M; Su, Zheng Z; Abolhassani, Hassan H; Zhang, Wei W; Jiang, Chongyi C; Cheng, Bochen B; Luo, Lihua L; Wu, Jinghua J; Wang, Shiyu S; Lin, Liya L; Wang, Xie X; Wang, Longlong L; Aghamohammadi, Asghar A; Li, Tao T; Zhang, Xiuqing X; Hammarström, Lennart L; Liu, Xiao X

Publication Date: 2022-02

Variant appearance in text: ATM: Tyr1034Ter

PubMed Link: 34825286

Variant Present in the following documents:

• Main text
• 10875_2021_Article_1178.pdf

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A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy

Du, Liutao L; Jung, Michael E ME; Damoiseaux, Robert R; Completo, Gladys G; Fike, Francesca F; Ku, Jin-Mo JM; Nahas, Shareef S; Piao, Cijing C; Hu, Hailiang H; Gatti, Richard A RA

Publication Date: 2013-09

Variant appearance in text: ATM: 3102T>G; Tyr1034X

PubMed Link: 23774824

Variant Present in the following documents:

• Main text

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