Publications:

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Deep learning model accurately classifies metastatic tumors from primary tumors based on mutational signatures.

Scientific Reports

Zheng, Weisheng W; Pu, Mengchen M; Li, Xiaorong X; Du, Zhaolan Z; Jin, Sutong S; Li, Xingshuai X; Zhou, Jielong J; Zhang, Yingsheng Y

Publication Date: 2023-05-30

Variant appearance in text: 225: A45T

PubMed Link: 37253775

Variant Present in the following documents:

• 41598_2023_35842_MOESM8_ESM.xlsx, sheet 3
• 41598_2023_35842_MOESM8_ESM.xlsx, sheet 1

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: 225: 133G>A

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Immune Infiltration-Related ceRNA Network Revealing Potential Biomarkers for Prognosis of Head and Neck Squamous Cell Carcinoma.

Disease Markers

Zhao, Shuai S; Peng, Mengle M; Wang, Zhongquan Z; Cao, Jingjing J; Zhang, Xinyu X; Yu, Ruijing R; Huang, Tao T; Lian, Wenping W

Publication Date: 2022

Variant appearance in text: 225: A45T

PubMed Link: 36097539

Variant Present in the following documents:

• 1014347.f2.pdf

View BVdb publication page

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Comprehensive analyses of PDHA1 that serves as a predictive biomarker for immunotherapy response in cancer.

Frontiers In Pharmacology

Deng, Langmei L; Jiang, Anqi A; Zeng, Hanqing H; Peng, Xiaoji X; Song, Liying L

Publication Date: 2022

Variant appearance in text: 225: A45T

PubMed Link: 36003495

Variant Present in the following documents:

• table4.xlsx, sheet 1

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: 225: 133G>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: 225: 133G>A

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: EGR1: 133G>A

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A45T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: 225: A45T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Embeddings from protein language models predict conservation and variant effects.

Human Genetics

Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B

Publication Date: 2022-10

Variant appearance in text: 225: A45T

PubMed Link: 34967936

Variant Present in the following documents:

• 439_2021_2411_MOESM3_ESM.xlsx, sheet 34

View BVdb publication page

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Identification of the Nerve-Cancer Cross-Talk-Related Prognostic Gene Model in Head and Neck Squamous Cell Carcinoma.

Frontiers In Oncology

Li, Jun J; Xu, Yunhong Y; Peng, Gang G; Zhu, Kuikui K; Wu, Zilong Z; Shi, Liangliang L; Wu, Gang G

Publication Date: 2021

Variant appearance in text: 225: A45T

PubMed Link: 34912722

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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The spliceosome pathway activity correlates with reduced anti-tumor immunity and immunotherapy response, and unfavorable clinical outcomes in pan-cancer.

Computational And Structural Biotechnology Journal

Chen, Zuobing Z; Chen, Canping C; Li, Lin L; Zhang, Tianfang T; Wang, Xiaosheng X

Publication Date: 2021

Variant appearance in text: 225: A45T

PubMed Link: 34667536

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: 225: A45T

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2
• CTM2-11-e524-s001.xlsx, sheet 4

View BVdb publication page

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Genetic Diversity of Microneme Protein 2 and Surface Antigen 1 of Eimeria tenella.

Genes

Võ, Tuấn Cường TC; Naw, Haung H; Flores, Rochelle A RA; Lê, Hương Giang HG; Kang, Jung-Mi JM; Yoo, Won Gi WG; Kim, Woo-Hyun WH; Min, Wongi W; Na, Byoung-Kuk BK

Publication Date: 2021-09-15

Variant appearance in text: 225: A45T

PubMed Link: 34573400

Variant Present in the following documents:

• Main text
• genes-12-01418.pdf

View BVdb publication page

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Long noncoding RNA SNHG1 promotes TERT expression by sponging miR-18b-5p in breast cancer.

Cell & Bioscience

Kang, Yujuan Y; Wan, Lin L; Wang, Qin Q; Yin, Yanling Y; Liu, Jiena J; Liu, Lei L; Wu, Hao H; Zhang, Lei L; Zhang, Xin X; Xu, Shouping S; Pang, Da D

Publication Date: 2021-08-31

Variant appearance in text: 225: A45T

PubMed Link: 34465388

Variant Present in the following documents:

• 13578_2021_675_MOESM4_ESM.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: 225: A45T

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: 225: 133G>A

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Genomic analysis of the prognostic effect of tumor-associated neutrophil-related genes across 15 solid cancer types: an immune perspective.

Annals Of Translational Medicine

Hao, Yuying Y; Hu, Pingping P; Zhang, Jiandong J

Publication Date: 2020-11

Variant appearance in text: 225: A45T

PubMed Link: 33313252

Variant Present in the following documents:

• atm-08-22-1507-supplementary.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: 225: 133G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Mapping the spreading routes of lymphatic metastases in human colorectal cancer.

Nature Communications

Zhang, Chong C; Zhang, Lin L; Xu, Tianlei T; Xue, Ruidong R; Yu, Liang L; Zhu, Yuelu Y; Wu, Yunlong Y; Zhang, Qingqing Q; Li, Dongdong D; Shen, Shuohao S; Tan, Dongfeng D; Bai, Fan F; Zhang, Haizeng H

Publication Date: 2020-04-24

Variant appearance in text: 225: 133G>A

PubMed Link: 32332722

Variant Present in the following documents:

• 41467_2020_15886_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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The asymmetry and cooperativity of tandem glycine riboswitch aptamers.

Rna (New York, N.Y.)

Torgerson, Chad D CD; Hiller, David A DA; Strobel, Scott A SA

Publication Date: 2020-05

Variant appearance in text: 225: A45T

PubMed Link: 31992591

Variant Present in the following documents:

• supp_073577.119_Supplemental_SMARTT_Data.xlsx, sheet 4

View BVdb publication page

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CNApp, a tool for the quantification of copy number alterations and integrative analysis revealing clinical implications.

Elife

Franch-Expósito, Sebastià S; Bassaganyas, Laia L; Vila-Casadesús, Maria M; Hernández-Illán, Eva E; Esteban-Fabró, Roger R; Díaz-Gay, Marcos M; Lozano, Juan José JJ; Castells, Antoni A; Llovet, Josep Maria JM; Castellví-Bel, Sergi S; Camps, Jordi J

Publication Date: 2020-01-15

Variant appearance in text: 225: A45T

PubMed Link: 31939734

Variant Present in the following documents:

• elife-50267-fig1-figsupp1-data1.xlsx, sheet 1

View BVdb publication page

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APOBEC3A is a prominent cytidine deaminase in breast cancer.

Plos Genetics

Cortez, Luis M LM; Brown, Amber L AL; Dennis, Madeline A MA; Collins, Christopher D CD; Brown, Alexander J AJ; Mitchell, Debra D; Mertz, Tony M TM; Roberts, Steven A SA

Publication Date: 2019-12

Variant appearance in text: 225: A45T

PubMed Link: 31841499

Variant Present in the following documents:

• pgen.1008545.s016.xlsx, sheet 10

View BVdb publication page

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 133G>A

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 133G>A

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: 225: A45T

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10

View BVdb publication page

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Decoding a cancer-relevant splicing decision in the RON proto-oncogene using high-throughput mutagenesis.

Nature Communications

Braun, Simon S; Enculescu, Mihaela M; Setty, Samarth T ST; Cortés-López, Mariela M; de Almeida, Bernardo P BP; Sutandy, F X Reymond FXR; Schulz, Laura L; Busch, Anke A; Seiler, Markus M; Ebersberger, Stefanie S; Barbosa-Morais, Nuno L NL; Legewie, Stefan S; König, Julian J; Zarnack, Kathi K

Publication Date: 2018-08-17

Variant appearance in text: 225: A45T

PubMed Link: 30120239

Variant Present in the following documents:

• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 10
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 6
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 7
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 3
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 9
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 5
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 8
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 4
• 41467_2018_5748_MOESM4_ESM.xlsx, sheet 2

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A comprehensive characterization of cis-acting splicing-associated variants in human cancer.

Genome Research

Shiraishi, Yuichi Y; Kataoka, Keisuke K; Chiba, Kenichi K; Okada, Ai A; Kogure, Yasunori Y; Tanaka, Hiroko H; Ogawa, Seishi S; Miyano, Satoru S

Publication Date: 2018-08

Variant appearance in text: 225: A45T

PubMed Link: 30012835

Variant Present in the following documents:

• supp_gr.231951.117_Supplemental_Table_S2.xlsx, sheet 1

View BVdb publication page

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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 133G>A

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Nitrogen Fixation Mutants of the Actinobacterium Frankia Casuarinae CcI3.

Microbes And Environments

Kucho, Ken-Ichi KI; Tamari, Daiki D; Matsuyama, Shintaro S; Nabekura, Takeshi T; Tisa, Louis S LS

Publication Date: 2017-12-27

Variant appearance in text: 225: Ala45Thr

PubMed Link: 29151446

Variant Present in the following documents:

• 32_344_s1.pdf

View BVdb publication page

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Mutation Clusters from Cancer Exome.

Genes

Kakushadze, Zura Z; Yu, Willie W

Publication Date: 2017-08-15

Variant appearance in text: 225: A45T

PubMed Link: 28809811

Variant Present in the following documents:

• Main text
• genes-08-00201.pdf

View BVdb publication page

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Modeling cancer driver events in vitro using barrier bypass-clonal expansion assays and massively parallel sequencing.

Oncogene

Huskova, H H; Ardin, M M; Weninger, A A; Vargova, K K; Barrin, S S; Villar, S S; Olivier, M M; Stopka, T T; Herceg, Z Z; Hollstein, M M; Zavadil, J J; Korenjak, M M

Publication Date: 2017-10-26

Variant appearance in text: 225: A45T

PubMed Link: 28692054

Variant Present in the following documents:

• onc2017215x4.xls, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 133G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide DNA methylation profile identified a unique set of differentially methylated immune genes in oral squamous cell carcinoma patients in India.

Clinical Epigenetics

Basu, Baidehi B; Chakraborty, Joyeeta J; Chandra, Aditi A; Katarkar, Atul A; Baldevbhai, Jadav Ritesh Kumar JRK; Dhar Chowdhury, Debjit D; Ray, Jay Gopal JG; Chaudhuri, Keya K; Chatterjee, Raghunath R

Publication Date: 2017

Variant appearance in text: 225: A45T

PubMed Link: 28174608

Variant Present in the following documents:

• 13148_2017_314_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: EGR1: 133G>A; A45T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: 225: Ala45Thr

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

View BVdb publication page

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De novo mutations in histone-modifying genes in congenital heart disease.

Nature

Zaidi, Samir S; Choi, Murim M; Wakimoto, Hiroko H; Ma, Lijiang L; Jiang, Jianming J; Overton, John D JD; Romano-Adesman, Angela A; Bjornson, Robert D RD; Breitbart, Roger E RE; Brown, Kerry K KK; Carriero, Nicholas J NJ; Cheung, Yee Him YH; Deanfield, John J; DePalma, Steve S; Fakhro, Khalid A KA; Glessner, Joseph J; Hakonarson, Hakon H; Italia, Michael J MJ; Kaltman, Jonathan R JR; Kaski, Juan J; Kim, Richard R; Kline, Jennie K JK; Lee, Teresa T; Leipzig, Jeremy J; Lopez, Alexander A; Mane, Shrikant M SM; Mitchell, Laura E LE; Newburger, Jane W JW; Parfenov, Michael M; Pe'er, Itsik I; Porter, George G; Roberts, Amy E AE; Sachidanandam, Ravi R; Sanders, Stephan J SJ; Seiden, Howard S HS; State, Mathew W MW; Subramanian, Sailakshmi S; Tikhonova, Irina R IR; Wang, Wei W; Warburton, Dorothy D; White, Peter S PS; Williams, Ismee A IA; Zhao, Hongyu H; Seidman, Jonathan G JG; Brueckner, Martina M; Chung, Wendy K WK; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Seidman, Christine E CE; Lifton, Richard P RP

Publication Date: 2013-06-13

Variant appearance in text: 225: A45T

PubMed Link: 23665959

Variant Present in the following documents:

• NIHMS483564-supplement-1.pdf

View BVdb publication page

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