Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: TCN2: K77M; rs75680863

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study of leprosy in Malawi and Mali.

Plos Pathogens

Gilchrist, James J JJ; Auckland, Kathryn K; Parks, Tom T; Mentzer, Alexander J AJ; Goldblatt, Lily L; Naranbhai, Vivek V; Band, Gavin G; Rockett, Kirk A KA; Toure, Ousmane B OB; Konate, Salimata S; Sissoko, Sibiri S; Djimdé, Abdoulaye A AA; Thera, Mahamadou A MA; Doumbo, Ogobara K OK; Sow, Samba S; Floyd, Sian S; Pönnighaus, Jörg M JM; Warndorff, David K DK; Crampin, Amelia C AC; Fine, Paul E M PEM; Fairfax, Benjamin P BP; Hill, Adrian V S AVS

Publication Date: 2022-09

Variant appearance in text: rs75680863

PubMed Link: 36121873

Variant Present in the following documents:

• Main text

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: TCN2: K77M

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: TCN2: K77M

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences

Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q

Publication Date: 2021

Variant appearance in text: TCN2: 230A>T; Lys77Met; rs75680863

PubMed Link: 34104084

Variant Present in the following documents:

• ijmsv18p2532s2.xlsx, sheet 1

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: TCN2: 230A>T; K77M; rs75680863

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: TCN2: 230A>T; Lys77Met; rs75680863

PubMed Link: 33867526

Variant Present in the following documents:

• 41431_2021_886_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: TCN2: K77M; rs75680863

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

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Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus.

Diabetes & Metabolism Journal

Cho, Seong Beom SB; Jang, Jin Hwa JH; Chung, Myung Guen MG; Kim, Sang Cheol SC

Publication Date: 2021-03

Variant appearance in text: rs75680863

PubMed Link: 32794382

Variant Present in the following documents:

• Main text
• dmj-2019-0163.pdf

View BVdb publication page

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Whole Genome Analyses of Chinese Population and De Novo Assembly of A Northern Han Genome.

Genomics, Proteomics & Bioinformatics

Du, Zhenglin Z; Ma, Liang L; Qu, Hongzhu H; Chen, Wei W; Zhang, Bing B; Lu, Xi X; Zhai, Weibo W; Sheng, Xin X; Sun, Yongqiao Y; Li, Wenjie W; Lei, Meng M; Qi, Qiuhui Q; Yuan, Na N; Shi, Shuo S; Zeng, Jingyao J; Wang, Jinyue J; Yang, Yadong Y; Liu, Qi Q; Hong, Yaqiang Y; Dong, Lili L; Zhang, Zhewen Z; Zou, Dong D; Wang, Yanqing Y; Song, Shuhui S; Liu, Fan F; Fang, Xiangdong X; Chen, Hua H; Liu, Xin X; Xiao, Jingfa J; Zeng, Changqing C

Publication Date: 2019-06

Variant appearance in text: rs75680863

PubMed Link: 31494266

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: TCN2: K77M

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55

View BVdb publication page

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A missense mutation in TCN2 is associated with decreased risk for congenital heart defects and may increase cellular uptake of vitamin B12 via Megalin.

Oncotarget

Li, Peiqiang P; Huang, Lijuan L; Zheng, Yufang Y; Pan, Xuedong X; Peng, Rui R; Jiang, Yueming Y; Finnell, Richard H RH; Li, Haijie H; Qiao, Bin B; Wang, Hong-Yan HY

Publication Date: 2017-08-15

Variant appearance in text: TCN2: 230A>T; Lys77Met; rs75680863

PubMed Link: 28903415

Variant Present in the following documents:

• Main text
• oncotarget-08-55216.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TCN2: K77M; rs75680863

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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