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: POLE: 1232T>C; Val411Ala

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.

Cell Reports

Knijnenburg, Theo A TA; Wang, Linghua L; Zimmermann, Michael T MT; Chambwe, Nyasha N; Gao, Galen F GF; Cherniack, Andrew D AD; Fan, Huihui H; Shen, Hui H; Way, Gregory P GP; Greene, Casey S CS; Liu, Yuexin Y; Akbani, Rehan R; Feng, Bin B; Donehower, Lawrence A LA; Miller, Chase C; Shen, Yang Y; Karimi, Mostafa M; Chen, Haoran H; Kim, Pora P; Jia, Peilin P; Shinbrot, Eve E; Zhang, Shaojun S; Liu, Jianfang J; Hu, Hai H; Bailey, Matthew H MH; Yau, Christina C; Wolf, Denise D; Zhao, Zhongming Z; Weinstein, John N JN; Li, Lei L; Ding, Li L; Mills, Gordon B GB; Laird, Peter W PW; Wheeler, David A DA; Shmulevich, Ilya I; , ; Monnat, Raymond J RJ; Xiao, Yonghong Y; Wang, Chen C

Publication Date: 2018-04-03

Variant appearance in text: POLE: V411A

PubMed Link: 29617664

Variant Present in the following documents:

• Main text
• nihms962902.pdf

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