Publications:

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: 225: 318T>A

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 5

View BVdb publication page

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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: 318T>A

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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: P106P

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: P106P

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research

Kumar, Sanjeet S; Bansal, Kanika K

Publication Date: 2021-11-22

Variant appearance in text: 225: P106P

PubMed Link: 34822953

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research

Kumar, Sanjeet S; Bansal, Kanika K

Publication Date: 2022-01-15

Variant appearance in text: 225: P106P

PubMed Link: 34822953

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine

Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T

Publication Date: 2021-11-08

Variant appearance in text: 225: P106P

PubMed Link: 34749812

Variant Present in the following documents:

• 13073_2021_975_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Nature Communications

Sun, Guangxi G; Chen, Junru J; Liang, Jiayu J; Yin, Xiaoxue X; Zhang, Mengni M; Yao, Jin J; He, Ning N; Armstrong, Cameron M CM; Zheng, Linmao L; Zhang, Xingming X; Zhu, Sha S; Sun, Xiaomeng X; Yang, Xiaoxia X; Zhao, Wanbin W; Liao, Banghua B; Pan, Xiuyi X; Nie, Ling L; Yang, Ling L; Chen, Yuntian Y; Zhao, Jinge J; Zhang, Haoran H; Dai, Jindong J; Shen, Yali Y; Liu, Jiyan J; Huang, Rui R; Liu, Jiandong J; Wang, Zhipeng Z; Ni, Yuchao Y; Wei, Qiang Q; Li, Xiang X; Zhou, Qiao Q; Huang, Haojie H; Liu, Zhenhua Z; Shen, Pengfei P; Chen, Ni N; Zeng, Hao H

Publication Date: 2021-09-06

Variant appearance in text: 225: 318T>A

PubMed Link: 34489456

Variant Present in the following documents:

• 41467_2021_25618_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational analysis and assessment of its impact on proteins of SARS-CoV-2 genomes from India.

Gene

Laskar, Rezwanuzzaman R; Ali, Safdar S

Publication Date: 2021-04-30

Variant appearance in text: 225: P106P

PubMed Link: 33549714

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: Pro106Pro

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One

Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J

Publication Date: 2020

Variant appearance in text: 225: Pro106Pro

PubMed Link: 32045463

Variant Present in the following documents:

• pone.0229020.s004.xlsx, sheet 1

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: 318T>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: 318T>A; Pro106Pro

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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Somatic mtDNA variation is an important component of Parkinson's disease.

Neurobiology Of Aging

Coxhead, Jonathan J; Kurzawa-Akanbi, Marzena M; Hussain, Rafiqul R; Pyle, Angela A; Chinnery, Patrick P; Hudson, Gavin G

Publication Date: 2016-02

Variant appearance in text: 225: P106P

PubMed Link: 26639157

Variant Present in the following documents:

• mmc2.xlsx, sheet 2

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: 225: P106P

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer.

Elife

Ju, Young Seok YS; Alexandrov, Ludmil B LB; Gerstung, Moritz M; Martincorena, Inigo I; Nik-Zainal, Serena S; Ramakrishna, Manasa M; Davies, Helen R HR; Papaemmanuil, Elli E; Gundem, Gunes G; Shlien, Adam A; Bolli, Niccolo N; Behjati, Sam S; Tarpey, Patrick S PS; Nangalia, Jyoti J; Massie, Charles E CE; Butler, Adam P AP; Teague, Jon W JW; Vassiliou, George S GS; Green, Anthony R AR; Du, Ming-Qing MQ; Unnikrishnan, Ashwin A; Pimanda, John E JE; Teh, Bin Tean BT; Munshi, Nikhil N; Greaves, Mel M; Vyas, Paresh P; El-Naggar, Adel K AK; Santarius, Tom T; Collins, V Peter VP; Grundy, Richard R; Taylor, Jack A JA; Hayes, D Neil DN; Malkin, David D; , ; , ; , ; Foster, Christopher S CS; Warren, Anne Y AY; Whitaker, Hayley C HC; Brewer, Daniel D; Eeles, Rosalind R; Cooper, Colin C; Neal, David D; Visakorpi, Tapio T; Isaacs, William B WB; Bova, G Steven GS; Flanagan, Adrienne M AM; Futreal, P Andrew PA; Lynch, Andy G AG; Chinnery, Patrick F PF; McDermott, Ultan U; Stratton, Michael R MR; Campbell, Peter J PJ

Publication Date: 2014-10-01

Variant appearance in text: 225: P106P

PubMed Link: 25271376

Variant Present in the following documents:

• elife02935s002.xlsx, sheet 3

View BVdb publication page

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: 225: P106P

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

View BVdb publication page

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