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: rs3087414

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

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Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Cold Spring Harbor Molecular Case Studies

Maciaszek, Jamie L JL; Oak, Ninad N; Chen, Wenan W; Hamilton, Kayla V KV; McGee, Rose B RB; Nuccio, Regina R; Mostafavi, Roya R; Hines-Dowell, Stacy S; Harrison, Lynn L; Taylor, Leslie L; Gerhardt, Elsie L EL; Ouma, Annastasia A; Edmonson, Michael N MN; Patel, Aman A; Nakitandwe, Joy J; Pappo, Alberto S AS; Azzato, Elizabeth M EM; Shurtleff, Sheila A SA; Ellison, David W DW; Downing, James R JR; Hudson, Melissa M MM; Robison, Leslie L LL; Santana, Victor V; Newman, Scott S; Zhang, Jinghui J; Wang, Zhaoming Z; Wu, Gang G; Nichols, Kim E KE; Kesserwan, Chimene A CA

Publication Date: 2019-10

Variant appearance in text: WRN: 3236C>A; Ser1079Ter; rs3087414

PubMed Link: 31604778

Variant Present in the following documents:

• supp_mcs.a004218_Supplemental_Tables.xlsx, sheet 7

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Association of OGG1 and MTHFR polymorphisms with age-related cataract: A systematic review and meta-analysis.

Plos One

Wu, Xiaohang X; Lai, Weiyi W; Lin, Haotian H; Liu, Yizhi Y

Publication Date: 2017

Variant appearance in text: rs3087414

PubMed Link: 28253266

Variant Present in the following documents:

• Main text
• pone.0172092.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3087414

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Polymorphisms of the WRN gene and DNA damage of peripheral lymphocytes in age-related cataract in a Han Chinese population.

Age (Dordrecht, Netherlands)

Jiang, Shengqun S; Hu, Nan N; Zhou, Jing J; Zhang, Junfang J; Gao, Ruifang R; Hu, Jianyan J; Guan, Huaijin H

Publication Date: 2013-12

Variant appearance in text: rs3087414

PubMed Link: 23334603

Variant Present in the following documents:

• Main text

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