Publications:

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: POLE: 301A>G; Lys101Glu

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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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: 301A>G; Lys101Glu; rs560654523

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Whole-exome sequencing identifies prognostic mutational signatures in gastric cancer.

Annals Of Translational Medicine

Zhu, Zhenxin Z; Fu, Hongbing H; Wang, Shengzhou S; Yu, Xinxin X; You, Qing Q; Shi, Mengyao M; Dai, Chun C; Wang, Guan G; Cha, Wei W; Wang, Weimin W

Publication Date: 2020-11

Variant appearance in text: POLE: K101E

PubMed Link: 33313229

Variant Present in the following documents:

• Main text
• atm-08-22-1484.pdf

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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: K101E

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page