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: RAD51D: 131G>A; Gly44Asp; rs374730714

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: RAD51D: 131G>A; G44D; rs374730714

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Song, Honglin H; Dicks, Ed E; Ramus, Susan J SJ; Tyrer, Jonathan P JP; Intermaggio, Maria P MP; Hayward, Jane J; Edlund, Christopher K CK; Conti, David D; Harrington, Patricia P; Fraser, Lindsay L; Philpott, Susan S; Anderson, Christopher C; Rosenthal, Adam A; Gentry-Maharaj, Aleksandra A; Bowtell, David D DD; Alsop, Kathryn K; Cicek, Mine S MS; Cunningham, Julie M JM; Fridley, Brooke L BL; Alsop, Jennifer J; Jimenez-Linan, Mercedes M; Høgdall, Estrid E; Høgdall, Claus K CK; Jensen, Allan A; Kjaer, Susanne Krüger SK; Lubiński, Jan J; Huzarski, Tomasz T; Jakubowska, Anna A; Gronwald, Jacek J; Poblete, Samantha S; Lele, Shashi S; Sucheston-Campbell, Lara L; Moysich, Kirsten B KB; Odunsi, Kunle K; Goode, Ellen L EL; Menon, Usha U; Jacobs, Ian J IJ; Gayther, Simon A SA; Pharoah, Paul D P PD

Publication Date: 2015-09-10

Variant appearance in text: RAD51D: G44D

PubMed Link: 26261251

Variant Present in the following documents:

• Main text

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