Publications:

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Evolutionary Origin of MUTYH Germline Pathogenic Variations in Modern Humans.

Biomolecules

Xiao, Fengxia F; Li, Jiaheng J; Lagniton, Philip Naderev Panuringan PNP; Kou, Si Hoi SH; Lei, Huijun H; Tam, Benjamin B; Wang, San Ming SM

Publication Date: 2023-02-24

Variant appearance in text: rs730881833

PubMed Link: 36979362

Variant Present in the following documents:

• biomolecules-13-00429.pdf

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Cancer carrier screening in the general population using whole-genome sequencing.

Cancer Medicine

Chang, Ya-Sian YS; Chao, Dy-San DS; Chung, Chin-Chun CC; Chou, Yu-Pao YP; Chang, Chieh-Min CM; Lin, Chia-Li CL; Chu, Hou-Wei HW; Chen, Hon-Da HD; Liu, Ting-Yuan TY; Juan, Yu-Hsuan YH; Chang, Shun-Jen SJ; Chang, Jan-Gowth JG

Publication Date: 2022-07-21

Variant appearance in text: rs730881833

PubMed Link: 35861108

Variant Present in the following documents:

• CAM4-12-1972-s008.xlsx, sheet 1
• CAM4-12-1972-s013.xlsx, sheet 1

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Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.

Bmc Genomic Data

Vanlallawma, Andrew A; Lallawmzuali, Doris D; Pautu, Jeremy L JL; Scaria, Vinod V; Sivasubbu, Sridhar S; Kumar, Nachimuthu Senthil NS

Publication Date: 2022-03-28

Variant appearance in text: rs730881833

PubMed Link: 35350997

Variant Present in the following documents:

• Main text
• 12863_2022_Article_1037.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: rs730881833

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM4_ESM.xlsx, sheet 1

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: rs730881833

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.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: rs730881833

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs730881833

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies

Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA

Publication Date: 2019-04

Variant appearance in text: rs730881833

PubMed Link: 30833417

Variant Present in the following documents:

• Main text
• supp_mcs.a003681_Supplemental_Table_S1_cancer_types_MUTYH_status.xlsx, sheet 3
• MCS003681Thi.pdf

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