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: 4588G>T; Glu1530Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 4588G>T; E1530X; rs864622479

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Brown, Noah A NA; Plouffe, Komal R KR; Yilmaz, Osman O; Weindorf, Steven C SC; Betz, Bryan L BL; Carey, Thomas E TE; Seethala, Raja R RR; McHugh, Jonathan B JB; Tomlins, Scott A SA; Udager, Aaron M AM

Publication Date: 2021-06

Variant appearance in text: ATM: E1530*

PubMed Link: 33203919

Variant Present in the following documents:

• Main text

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TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Brown, Noah A NA; Plouffe, Komal R KR; Yilmaz, Osman O; Weindorf, Steven C SC; Betz, Bryan L BL; Carey, Thomas E TE; Seethala, Raja R RR; McHugh, Jonathan B JB; Tomlins, Scott A SA; Udager, Aaron M AM

Publication Date: 2021-06

Variant appearance in text: ATM: E1530*

PubMed Link: 33203919

Variant Present in the following documents:

• Main text

View BVdb publication page

Molecular pathology of ataxia telangiectasia.

Journal Of Clinical Pathology

Taylor, A M R AM; Byrd, P J PJ

Publication Date: 2005-10

Variant appearance in text: ATM: E1530X

PubMed Link: 16189143

Variant Present in the following documents:

• Main text

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