Publications:

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A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine

Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK

Publication Date: 2020-12-08

Variant appearance in text: HR: K16R

PubMed Link: 33293522

Variant Present in the following documents:

• 41525_2020_Article_158.pdf

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dUTPase inhibition confers susceptibility to a thymidylate synthase inhibitor in DNA-repair-defective human cancer cells.

Cancer Science

Yokogawa, Tatsushi T; Yano, Wakako W; Tsukioka, Sayaka S; Osada, Akiko A; Wakasa, Takeshi T; Ueno, Hiroyuki H; Hoshino, Takuya T; Yamamura, Keisuke K; Fujioka, Akio A; Fukuoka, Masayoshi M; Ohkubo, Shuichi S; Matsuo, Kenichi K

Publication Date: 2021-01

Variant appearance in text: HR: K16R

PubMed Link: 33140501

Variant Present in the following documents:

• CAS-112-422.pdf

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UFL1 promotes histone H4 ufmylation and ATM activation.

Nature Communications

Qin, Bo B; Yu, Jia J; Nowsheen, Somaira S; Wang, Minghui M; Tu, Xinyi X; Liu, Tongzheng T; Li, Honglin H; Wang, Liewei L; Lou, Zhenkun Z

Publication Date: 2019-03-18

Variant appearance in text: HR: K16R

PubMed Link: 30886146

Variant Present in the following documents:

• 41467_2019_9175_MOESM1_ESM.pdf

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Pac13 is a Small, Monomeric Dehydratase that Mediates the Formation of the 3'-Deoxy Nucleoside of Pacidamycins.

Angewandte Chemie (International Ed. In English)

Michailidou, Freideriki F; Chung, Chun-Wa CW; Brown, Murray J B MJB; Bent, Andrew F AF; Naismith, James H JH; Leavens, William J WJ; Lynn, Sean M SM; Sharma, Sunil V SV; Goss, Rebecca J M RJM

Publication Date: 2017-10-02

Variant appearance in text: HR: K16R

PubMed Link: 28786545

Variant Present in the following documents:

• ANIE-56-12492-s001.pdf

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NuA4 initiates dynamic histone H4 acetylation to promote high-fidelity sister chromatid recombination at postreplication gaps.

Molecular Cell

House, Nealia C M NCM; Yang, Jiahui H JH; Walsh, Stephen C SC; Moy, Jonathan M JM; Freudenreich, Catherine H CH

Publication Date: 2014-09-18

Variant appearance in text: HR: K16R

PubMed Link: 25132173

Variant Present in the following documents:

• Main text

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The G32E functional variant reduces activity of PPARD by nuclear export and post-translational modification in pigs.

Plos One

Duan, Yanyu Y; Brenig, Bertram B; Wu, Xiaohui X; Ren, Jun J; Huang, Lusheng L

Publication Date: 2013

Variant appearance in text: HR: K16R

PubMed Link: 24058710

Variant Present in the following documents:

• pone.0075925.pdf

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