Publications:

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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: 513C>T; Tyr171=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Biomedicines

Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA

Publication Date: 2020-09-05

Variant appearance in text: ATM: Y171Y

PubMed Link: 32899500

Variant Present in the following documents:

• Main text
• biomedicines-08-00332.pdf

View BVdb publication page

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 513C>T

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

Nucleic Acid Therapeutics

Siva, Kavitha K; Covello, Giuseppina G; Denti, Michela A MA

Publication Date: 2014-02

Variant appearance in text: ATM: Y171Y

PubMed Link: 24506781

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics

Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A

Publication Date: 2011

Variant appearance in text: ATM: Y171Y

PubMed Link: 21992029

Variant Present in the following documents:

• 1471-2105-12-S4-S2-S1.pdf

View BVdb publication page

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Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Du, Liutao L; Pollard, Julianne M JM; Gatti, Richard A RA

Publication Date: 2007-04-03

Variant appearance in text: ATM: Y171Y

PubMed Link: 17389389

Variant Present in the following documents:

• Main text

View BVdb publication page

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