Publications:

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: 3886C>T; P1296S; rs864622654

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Primary intracranial soft tissue sarcomas in children, adolescents, and young adults: single institution experience and review of the literature.

Journal Of Neuro-Oncology

Maher, Ossama M OM; Khatua, Soumen S; Mukherjee, Devashis D; Olar, Adriana A; Lazar, Alexander A; Luthra, Raja R; Liu, Diane D; Wu, Jimin J; Ketonen, Leena L; Zaky, Wafik W

Publication Date: 2016-03

Variant appearance in text: ATM: 3886C>T; P1296S

PubMed Link: 26718692

Variant Present in the following documents:

• Main text

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Targeted ultra-deep sequencing reveals recurrent and mutually exclusive mutations of cancer genes in blastic plasmacytoid dendritic cell neoplasm.

Oncotarget

Stenzinger, Albrecht A; Endris, Volker V; Pfarr, Nicole N; Andrulis, Mindaugas M; Jöhrens, Korinna K; Klauschen, Frederick F; Siebolts, Udo U; Wolf, Thomas T; Koch, Philipp-Sebastian PS; Schulz, Miriam M; Hartschuh, Wolfgang W; Goerdt, Sergij S; Lennerz, Jochen K JK; Wickenhauser, Claudia C; Klapper, Wolfram W; Anagnostopoulos, Ioannis I; Weichert, Wilko W

Publication Date: 2014-08-15

Variant appearance in text: ATM: Pro1296Ser

PubMed Link: 25115387

Variant Present in the following documents:

• Main text
• oncotarget-05-6404.pdf
• oncotarget-05-6404-s001.xlsx, sheet 1

View BVdb publication page