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: 6466G>A; V2156I; rs542978638

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

European Journal Of Human Genetics : Ejhg

Luo, Hui H; Liu, Dan D; Liu, Wenbing W; Wang, Gaoxiang G; Chen, Liting L; Cao, Yang Y; Wei, Jia J; Xiao, Min M; Liu, Xin X; Huang, Gang G; Wang, Wei W; Zhou, Jianfeng J; Wang, Qian-Fei QF

Publication Date: 2021-08

Variant appearance in text: POLE: 6466G>A; Val2156Ile; rs542978638

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: POLE: 6466G>A; V2156I

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: V2156I

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page