Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs7784168

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: POT1: 870-33A>G; rs7784168

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs7784168

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: rs7784168

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 13

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: POT1: 870-33A>G; rs7784168

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.

G3 (Bethesda, Md.)

Müller, Christoph C; Krunic, Milica M; Wendt, Judith J; von Haeseler, Arndt A; Okamoto, Ichiro I

Publication Date: 2018-05-04

Variant appearance in text: rs7784168

PubMed Link: 29523635

Variant Present in the following documents:

• 1475.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7784168

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs7784168

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Detection of the rs10250202 polymorphism in protection of telomeres 1 gene through introducing a new restriction enzyme site for PCR-RFLP assay.

Springerplus

Wang, Sihua S; Duan, Xiaoran X; Wang, Tuanwei T; Feng, Xiaolei X; Wang, Pengpeng P; Yao, Wu W; Wu, Yongjun Y; Wu, Yiming Y; Yan, Zhen Z; Feng, Feifei F; Yu, Songcheng S; Wang, Wei W

Publication Date: 2016

Variant appearance in text: rs7784168

PubMed Link: 27247888

Variant Present in the following documents:

• Main text
• 40064_2016_Article_2214.pdf

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: rs7784168

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 3
• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.

Nature Communications

Calvete, Oriol O; Martinez, Paula P; Garcia-Pavia, Pablo P; Benitez-Buelga, Carlos C; Paumard-Hernández, Beatriz B; Fernandez, Victoria V; Dominguez, Fernando F; Salas, Clara C; Romero-Laorden, Nuria N; Garcia-Donas, Jesus J; Carrillo, Jaime J; Perona, Rosario R; Triviño, Juan Carlos JC; Andrés, Raquel R; Cano, Juana María JM; Rivera, Bárbara B; Alonso-Pulpon, Luis L; Setien, Fernando F; Esteller, Manel M; Rodriguez-Perales, Sandra S; Bougeard, Gaelle G; Frebourg, Tierry T; Urioste, Miguel M; Blasco, Maria A MA; Benítez, Javier J

Publication Date: 2015-09-25

Variant appearance in text: rs7784168

PubMed Link: 26403419

Variant Present in the following documents:

• ncomms9383-s1.pdf

View BVdb publication page

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TERT promoter mutations and polymorphisms as prognostic factors in primary glioblastoma.

Oncotarget

Mosrati, Mohamed Ali MA; Malmström, Annika A; Lysiak, Malgorzata M; Krysztofiak, Adam A; Hallbeck, Martin M; Milos, Peter P; Hallbeck, Anna-Lotta AL; Bratthäll, Charlotte C; Strandéus, Michael M; Stenmark-Askmalm, Marie M; Söderkvist, Peter P

Publication Date: 2015-06-30

Variant appearance in text: rs7784168

PubMed Link: 26143636

Variant Present in the following documents:

• Main text
• oncotarget-06-16663.pdf

View BVdb publication page

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Multiple genetic variants in telomere pathway genes and breast cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Shen, Jing J; Gammon, Marilie D MD; Wu, Hui-Chen HC; Terry, Mary Beth MB; Wang, Qiao Q; Bradshaw, Patrick T PT; Teitelbaum, Susan L SL; Neugut, Alfred I AI; Santella, Regina M RM

Publication Date: 2010-01

Variant appearance in text: rs7784168

PubMed Link: 20056641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in five genes important in telomere biology and risk for breast cancer.

British Journal Of Cancer

Savage, S A SA; Chanock, S J SJ; Lissowska, J J; Brinton, L A LA; Richesson, D D; Peplonska, B B; Bardin-Mikolajczak, A A; Zatonski, W W; Szeszenia-Dabrowska, N N; Garcia-Closas, M M

Publication Date: 2007-09-17

Variant appearance in text: rs7784168

PubMed Link: 17848914

Variant Present in the following documents:

• Main text
• 6603934a.pdf

View BVdb publication page

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