Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 229G>A; G77S

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: 229G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Detection of early seeding of Richter transformation in chronic lymphocytic leukemia.

Nature Medicine

Nadeu, Ferran F; Royo, Romina R; Massoni-Badosa, Ramon R; Playa-Albinyana, Heribert H; Garcia-Torre, Beatriz B; Duran-Ferrer, Martí M; Dawson, Kevin J KJ; Kulis, Marta M; Diaz-Navarro, Ander A; Villamor, Neus N; Melero, Juan L JL; Chapaprieta, Vicente V; Dueso-Barroso, Ana A; Delgado, Julio J; Moia, Riccardo R; Ruiz-Gil, Sara S; Marchese, Domenica D; Giró, Ariadna A; Verdaguer-Dot, Núria N; Romo, Mónica M; Clot, Guillem G; Rozman, Maria M; Frigola, Gerard G; Rivas-Delgado, Alfredo A; Baumann, Tycho T; Alcoceba, Miguel M; González, Marcos M; Climent, Fina F; Abrisqueta, Pau P; Castellví, Josep J; Bosch, Francesc F; Aymerich, Marta M; Enjuanes, Anna A; Ruiz-Gaspà, Sílvia S; López-Guillermo, Armando A; Jares, Pedro P; Beà, Sílvia S; Capella-Gutierrez, Salvador S; Gelpí, Josep Ll JL; López-Bigas, Núria N; Torrents, David D; Campbell, Peter J PJ; Gut, Ivo I; Rossi, Davide D; Gaidano, Gianluca G; Puente, Xose S XS; Garcia-Roves, Pablo M PM; Colomer, Dolors D; Heyn, Holger H; Maura, Francesco F; Martín-Subero, José I JI; Campo, Elías E

Publication Date: 2022-08

Variant appearance in text: TG: 229G>A; Gly77Arg

PubMed Link: 35953718

Variant Present in the following documents:

• 41591_2022_1927_MOESM3_ESM.xlsx, sheet 21

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: TG: 229G>A

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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A Comprehensive Survey of Genomic Mutations in Breast Cancer Reveals Recurrent Neoantigens as Potential Therapeutic Targets.

Frontiers In Oncology

Zhou, Si S; Liu, Songming S; Zhao, Lijian L; Sun, Hai-Xi HX

Publication Date: 2022

Variant appearance in text: TG: G77S

PubMed Link: 35387130

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TG: G77S; rs142698837

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Phenethylamine is a substrate of monoamine oxidase B in the paraventricular thalamic nucleus.

Scientific Reports

Obata, Youhei Y; Kubota-Sakashita, Mie M; Kasahara, Takaoki T; Mizuno, Masafumi M; Nemoto, Takahiro T; Kato, Tadafumi T

Publication Date: 2022-01-07

Variant appearance in text: TG: 229G>A

PubMed Link: 34996979

Variant Present in the following documents:

• 41598_2021_3885_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: TG: 229G>A

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: TG: 229G>A

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 5

View BVdb publication page

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Intra-amniotic levothyroxine infusions in a case of fetal goiter due to novel Thyroglobulin gene variants.

Clinical Case Reports

Pollé, Olivier G OG; Gheldof, Alexander A; Lysy, Philippe A PA; Bernard, Pierre P

Publication Date: 2021-09

Variant appearance in text: TG: 229G>A; Gly77Ser

PubMed Link: 34484748

Variant Present in the following documents:

• Main text
• CCR3-9-e04565.pdf

View BVdb publication page

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Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis.

Frontiers In Endocrinology

Oliver-Petit, Isabelle I; Edouard, Thomas T; Jacques, Virginie V; Bournez, Marie M; Cartault, Audrey A; Grunenwald, Solange S; Savagner, Frédérique F

Publication Date: 2021

Variant appearance in text: TG: 229G>A; Gly77Ser

PubMed Link: 34248839

Variant Present in the following documents:

• Main text
• fendo-12-657913.pdf

View BVdb publication page

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Natural Genetic Diversity in Tomato Flavor Genes.

Frontiers In Plant Science

Pereira, Lara L; Sapkota, Manoj M; Alonge, Michael M; Zheng, Yi Y; Zhang, Youjun Y; Razifard, Hamid H; Taitano, Nathan K NK; Schatz, Michael C MC; Fernie, Alisdair R AR; Wang, Ying Y; Fei, Zhangjun Z; Caicedo, Ana L AL; Tieman, Denise M DM; van der Knaap, Esther E

Publication Date: 2021

Variant appearance in text: TG: 229G>A; Gly77Ser

PubMed Link: 34149747

Variant Present in the following documents:

• Table_3.xlsx, sheet 3

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: TG: G77S

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Genome Medicine

Stranneheim, Henrik H; Lagerstedt-Robinson, Kristina K; Magnusson, Måns M; Kvarnung, Malin M; Nilsson, Daniel D; Lesko, Nicole N; Engvall, Martin M; Anderlid, Britt-Marie BM; Arnell, Henrik H; Johansson, Carolina Backman CB; Barbaro, Michela M; Björck, Erik E; Bruhn, Helene H; Eisfeldt, Jesper J; Freyer, Christoph C; Grigelioniene, Giedre G; Gustavsson, Peter P; Hammarsjö, Anna A; Hellström-Pigg, Maritta M; Iwarsson, Erik E; Jemt, Anders A; Laaksonen, Mikael M; Enoksson, Sara Lind SL; Malmgren, Helena H; Naess, Karin K; Nordenskjöld, Magnus M; Oscarson, Mikael M; Pettersson, Maria M; Rasi, Chiara C; Rosenbaum, Adam A; Sahlin, Ellika E; Sardh, Eliane E; Stödberg, Tommy T; Tesi, Bianca B; Tham, Emma E; Thonberg, Håkan H; Töhönen, Virpi V; von Döbeln, Ulrika U; Vassiliou, Daphne D; Vonlanthen, Sofie S; Wikström, Ann-Charlotte AC; Wincent, Josephine J; Winqvist, Ola O; Wredenberg, Anna A; Ygberg, Sofia S; Zetterström, Rolf H RH; Marits, Per P; Soller, Maria Johansson MJ; Nordgren, Ann A; Wirta, Valtteri V; Lindstrand, Anna A; Wedell, Anna A

Publication Date: 2021-03-17

Variant appearance in text: TG: 229G>A; Gly77Ser

PubMed Link: 33726816

Variant Present in the following documents:

• 13073_2021_855_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine

Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M

Publication Date: 2020-12-30

Variant appearance in text: TG: 229G>A

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

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: TG: 229G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: TG: G77S

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports

Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA

Publication Date: 2018-04-03

Variant appearance in text: TG: 229G>A

PubMed Link: 29617651

Variant Present in the following documents:

• NIHMS958971-supplement-5.xlsx, sheet 2
• NIHMS958971-supplement-5.xlsx, sheet 1

View BVdb publication page

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Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.

Science (New York, N.Y.)

Bastarache, Lisa L; Hughey, Jacob J JJ; Hebbring, Scott S; Marlo, Joy J; Zhao, Wanke W; Ho, Wanting T WT; Van Driest, Sara L SL; McGregor, Tracy L TL; Mosley, Jonathan D JD; Wells, Quinn S QS; Temple, Michael M; Ramirez, Andrea H AH; Carroll, Robert R; Osterman, Travis T; Edwards, Todd T; Ruderfer, Douglas D; Velez Edwards, Digna R DR; Hamid, Rizwan R; Cogan, Joy J; Glazer, Andrew A; Wei, Wei-Qi WQ; Feng, QiPing Q; Brilliant, Murray M; Zhao, Zhizhuang J ZJ; Cox, Nancy J NJ; Roden, Dan M DM; Denny, Joshua C JC

Publication Date: 2018-03-16

Variant appearance in text: TG: 229G>A; G77S; rs142698837

PubMed Link: 29590070

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TG: 229G>A

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: TG: 229G>A; Gly77Ser

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: TG: 229G>A

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

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: TG: 229G>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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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: TG: G77S

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: TG: G77S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Affinity-matured recombinant immunotoxin targeting gangliosides 3'-isoLM1 and 3',6'-isoLD1 on malignant gliomas.

Mabs

Piao, Hailan H; Kuan, Chien-Tsun CT; Chandramohan, Vidya V; Keir, Stephen T ST; Pegram, Charles N CN; Bao, Xuhui X; Månsson, Jan-Eric JE; Pastan, Ira H IH; Bigner, Darell D DD

Publication Date: 2013

Variant appearance in text: TG: G77S

PubMed Link: 23924792

Variant Present in the following documents:

• Main text

View BVdb publication page

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