Publications:

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The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Brain : A Journal Of Neurology

Wu, Chujun C; Wang, Mengwen M; Wang, Xingao X; Li, Wei W; Li, Shaowu S; Chen, Bin B; Niu, Songtao S; Tai, Hongfei H; Pan, Hua H; Zhang, Zaiqiang Z

Publication Date: 2022-11-16

Variant appearance in text: PC: 584C>T; A195V

PubMed Link: 36380532

Variant Present in the following documents:

• awac426_supplementary_data.pdf

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: PC: 584C>T; Ala195Val

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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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: PC: 584C>T; Ala195Val

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: PC: A195V

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 7

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: PC: A195V

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: PC: A195V

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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EcoTILLING by sequencing reveals polymorphisms in genes encoding starch synthases that are associated with low glycemic response in rice.

Bmc Plant Biology

Raja, Ramadoss Bharathi RB; Agasimani, Somanath S; Jaiswal, Sarita S; Thiruvengadam, Venkatesan V; Sabariappan, Robin R; Chibbar, Ravindra N RN; Ram, Sundaram Ganesh SG

Publication Date: 2017-01-14

Variant appearance in text: PC: A195V

PubMed Link: 28088172

Variant Present in the following documents:

• 12870_2016_Article_968.pdf

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: PC: 584C>T; A195V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Journal Of Translational Medicine

Pronicka, Ewa E; Piekutowska-Abramczuk, Dorota D; Ciara, Elżbieta E; Trubicka, Joanna J; Rokicki, Dariusz D; Karkucińska-Więckowska, Agnieszka A; Pajdowska, Magdalena M; Jurkiewicz, Elżbieta E; Halat, Paulina P; Kosińska, Joanna J; Pollak, Agnieszka A; Rydzanicz, Małgorzata M; Stawinski, Piotr P; Pronicki, Maciej M; Krajewska-Walasek, Małgorzata M; Płoski, Rafał R

Publication Date: 2016-06-12

Variant appearance in text: PC: 584C>T; Ala195Val

PubMed Link: 27290639

Variant Present in the following documents:

• Main text
• 12967_2016_Article_930.pdf

View BVdb publication page

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: PC: A195V

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

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: PC: 584C>T; A195V

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

View BVdb publication page

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