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: A51T

PubMed Link: 37253775

Variant Present in the following documents:

• 41598_2023_35842_MOESM8_ESM.xlsx, sheet 2
• 41598_2023_35842_MOESM8_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: 225: 151G>A

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM5_ESM.xlsx, sheet 11

View BVdb publication page

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Two subtypes of cutaneous melanoma with distinct mutational signatures and clinico-genomic characteristics.

Frontiers In Genetics

Kim, Yoon-Seob YS; Lee, Minho M; Chung, Yeun-Jun YJ

Publication Date: 2022

Variant appearance in text: 225: A51T

PubMed Link: 36246650

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 3

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: 225: A51T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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A platform for oncogenomic reporting and interpretation.

Nature Communications

Reisle, Caralyn C; Williamson, Laura M LM; Pleasance, Erin E; Davies, Anna A; Pellegrini, Brayden B; Bleile, Dustin W DW; Mungall, Karen L KL; Chuah, Eric E; Jones, Martin R MR; Ma, Yussanne Y; Lewis, Eleanor E; Beckie, Isaac I; Pham, David D; Matiello Pletz, Raphael R; Muhammadzadeh, Amir A; Pierce, Brandon M BM; Li, Jacky J; Stevenson, Ross R; Wong, Hansen H; Bailey, Lance L; Reisle, Abbey A; Douglas, Matthew M; Bonakdar, Melika M; Nelson, Jessica M T JMT; Grisdale, Cameron J CJ; Krzywinski, Martin M; Fisic, Ana A; Mitchell, Teresa T; Renouf, Daniel J DJ; Yip, Stephen S; Laskin, Janessa J; Marra, Marco A MA; Jones, Steven J M SJM

Publication Date: 2022-02-09

Variant appearance in text: 225: A51T

PubMed Link: 35140225

Variant Present in the following documents:

• 41467_2022_28348_MOESM4_ESM.xlsx, sheet 9

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: A51T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6
• 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: A51T

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8
• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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HDAC2 Facilitates Pancreatic Cancer Metastasis.

Cancer Research

Krauß, Lukas L; Urban, Bettina C BC; Hastreiter, Sieglinde S; Schneider, Carolin C; Wenzel, Patrick P; Hassan, Zonera Z; Wirth, Matthias M; Lankes, Katharina K; Terrasi, Andrea A; Klement, Christine C; Cernilogar, Filippo M FM; Öllinger, Rupert R; de Andrade Krätzig, Niklas N; Engleitner, Thomas T; Schmid, Roland M RM; Steiger, Katja K; Rad, Roland R; Krämer, Oliver H OH; Reichert, Maximilian M; Schotta, Gunnar G; Saur, Dieter D; Schneider, Günter G

Publication Date: 2022-02-15

Variant appearance in text: 225: 151G>A

PubMed Link: 34903606

Variant Present in the following documents:

• can-20-3209_supplementary_table_3_suppst3.xlsx, sheet 2

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: A51T

PubMed Link: 34667536

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: A51T

PubMed Link: 34465388

Variant Present in the following documents:

• 13578_2021_675_MOESM4_ESM.pdf

View BVdb publication page

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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Human Mutation

Zanetti, Alessandra A; D'Avanzo, Francesca F; AlSayed, Moeenaldeen M; Brusius-Facchin, Ana Carolina AC; Chien, Yin-Hsiu YH; Giugliani, Roberto R; Izzo, Emanuela E; Kasper, David C DC; Lin, Hsiang-Yu HY; Lin, Shuan-Pei SP; Pollard, Laura L; Singh, Akashdeep A; Tonin, Rodolfo R; Wood, Tim T; Morrone, Amelia A; Tomanin, Rosella R

Publication Date: 2021-11

Variant appearance in text: 225: 151G>A

PubMed Link: 34387910

Variant Present in the following documents:

• HUMU-42-1384-s001.xlsx, sheet 4

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: 225: A51T

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.

Computational And Structural Biotechnology Journal

Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T

Publication Date: 2021

Variant appearance in text: 225: A51T

PubMed Link: 34109017

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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: 225: A51T

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, 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: A51T

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: A51T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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A Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 151G>A

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.xlsx, sheet 1

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: 225: 151G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: 225: 151G>A

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer analysis of somatic mutations in miRNA genes.

Ebiomedicine

Urbanek-Trzeciak, Martyna O MO; Galka-Marciniak, Paulina P; Nawrocka, Paulina M PM; Kowal, Ewelina E; Szwec, Sylwia S; Giefing, Maciej M; Kozlowski, Piotr P

Publication Date: 2020-11

Variant appearance in text: 225: A51T

PubMed Link: 33038763

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence.

British Journal Of Cancer

Rabbie, Roy R; Ferguson, Peter P; Wong, Kim K; Couturier, Dominique-Laurent DL; Moran, Una U; Turner, Clinton C; Emanuel, Patrick P; Haas, Kerstin K; Saunus, Jodi M JM; Davidson, Morgan R MR; Lakhani, Sunil R SR; Shivalingam, Brindha B; Long, Georgina V GV; Parkinson, Christine C; Osman, Iman I; Scolyer, Richard A RA; Corrie, Pippa P; Adams, David J DJ

Publication Date: 2021-01

Variant appearance in text: 225: A51T

PubMed Link: 33024263

Variant Present in the following documents:

• 41416_2020_1090_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications

Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J

Publication Date: 2020-09-28

Variant appearance in text: 225: A51T

PubMed Link: 32985499

Variant Present in the following documents:

• 41467_2020_18702_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.

Circulation. Genomic And Precision Medicine

Boskovski, Marko T MT; Homsy, Jason J; Nathan, Meena M; Sleeper, Lynn A LA; Morton, Sarah S; Manheimer, Kathryn B KB; Tai, Angela A; Gorham, Joshua J; Lewis, Matthew M; Swartz, Michael M; Alfieris, George M GM; Bacha, Emile A EA; Karimi, Mohsen M; Meyer, David D; Nguyen, Khanh K; Bernstein, Daniel D; Romano-Adesman, Angela A; Porter, George A GA; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Srivastava, Deepak D; Kaltman, Jonathan R JR; Tristani-Firouzi, Martin M; Lifton, Richard R; Roberts, Amy E AE; Gaynor, J William JW; Gelb, Bruce D BD; Kim, Richard R; Seidman, Jonathan G JG; Brueckner, Martina M; Mayer, John E JE; Newburger, Jane W JW; Seidman, Christine E CE

Publication Date: 2020-08

Variant appearance in text: 225: A51T

PubMed Link: 32812804

Variant Present in the following documents:

• hcg-13-e002836-s001.pdf

View BVdb publication page

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Induction of IRAK-M in melanoma induces caspase-3 dependent apoptosis by reducing TRAF6 and calpastatin levels.

Communications Biology

Geng, Degui D; Ciavattone, Nicholas N; Lasola, Jackline Joy JJ; Shrestha, Rojesh R; Sanchez, Amelia A; Guo, Jitao J; Vlk, Alexandra A; Younis, Rania R; Wang, Lucy L; Brown, Alex J AJ; Zhang, Yuji Y; Velasco-Gonzalez, Cruz C; Tan, Aik-Choon AC; Davila, Eduardo E

Publication Date: 2020-06-12

Variant appearance in text: 225: A51T

PubMed Link: 32533049

Variant Present in the following documents:

• 42003_2020_1033_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Interplay between DNA damage repair and apoptosis shapes cancer evolution through aneuploidy and microsatellite instability.

Nature Communications

Auslander, Noam N; Wolf, Yuri I YI; Koonin, Eugene V EV

Publication Date: 2020-03-06

Variant appearance in text: 225: A51T

PubMed Link: 32144251

Variant Present in the following documents:

• 41467_2020_15094_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Predicting clinical benefit of immunotherapy by antigenic or functional mutations affecting tumour immunogenicity.

Nature Communications

Kim, Kwoneel K; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Jung, Hyunchul H; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2020-02-19

Variant appearance in text: 225: A51T

PubMed Link: 32075964

Variant Present in the following documents:

• 41467_2020_14562_MOESM11_ESM.xlsx, sheet 13

View BVdb publication page

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Elevated neoantigen levels in tumors with somatic mutations in the HLA-A, HLA-B, HLA-C and B2M genes.

Bmc Medical Genomics

Castro, Andrea A; Ozturk, Kivilcim K; Pyke, Rachel Marty RM; Xian, Su S; Zanetti, Maurizio M; Carter, Hannah H

Publication Date: 2019-07-25

Variant appearance in text: 225: A51T

PubMed Link: 31345234

Variant Present in the following documents:

• 12920_2019_544_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: 225: 151G>A

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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The lncRNA SLNCR Recruits the Androgen Receptor to EGR1-Bound Genes in Melanoma and Inhibits Expression of Tumor Suppressor p21.

Cell Reports

Schmidt, Karyn K; Carroll, Johanna S JS; Yee, Elaine E; Thomas, Dolly D DD; Wert-Lamas, Leon L; Neier, Steven C SC; Sheynkman, Gloria G; Ritz, Justin J; Novina, Carl D CD

Publication Date: 2019-05-21

Variant appearance in text: EGR1: A51T

PubMed Link: 31116991

Variant Present in the following documents:

• NIHMS1530019-supplement-5.pdf
• NIHMS1530019-supplement-1.pdf

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: 151G>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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Phylogenetic and mutational analyses of human LEUTX, a homeobox gene implicated in embryogenesis.

Scientific Reports

Katayama, Shintaro S; Ranga, Vipin V; Jouhilahti, Eeva-Mari EM; Airenne, Tomi T TT; Johnson, Mark S MS; Mukherjee, Krishanu K; Bürglin, Thomas R TR; Kere, Juha J

Publication Date: 2018-11-27

Variant appearance in text: 225: 151G>A

PubMed Link: 30479355

Variant Present in the following documents:

• 41598_2018_35547_MOESM1_ESM.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: 225: 151G>A

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: 225: 151G>A

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A multiple myeloma-specific capture sequencing platform discovers novel translocations and frequent, risk-associated point mutations in IGLL5.

Blood Cancer Journal

White, Brian S BS; Lanc, Irena I; O'Neal, Julie J; Gupta, Harshath H; Fulton, Robert S RS; Schmidt, Heather H; Fronick, Catrina C; Belter, Edward A EA; Fiala, Mark M; King, Justin J; Ahmann, Greg J GJ; DeRome, Mary M; Mardis, Elaine R ER; Vij, Ravi R; DiPersio, John F JF; Levy, Joan J; Auclair, Daniel D; Tomasson, Michael H MH

Publication Date: 2018-03-21

Variant appearance in text: 225: A51T

PubMed Link: 29563506

Variant Present in the following documents:

• 41408_2018_62_MOESM1_ESM.xls, sheet 8

View BVdb publication page

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The protective role of DOT1L in UV-induced melanomagenesis.

Nature Communications

Zhu, Bo B; Chen, Shuyang S; Wang, Hongshen H; Yin, Chengqian C; Han, Changpeng C; Peng, Cong C; Liu, Zhaoqian Z; Wan, Lixin L; Zhang, Xiaoyang X; Zhang, Jie J; Lian, Christine G CG; Ma, Peilin P; Xu, Zhi-Xiang ZX; Prince, Sharon S; Wang, Tao T; Gao, Xiumei X; Shi, Yujiang Y; Liu, Dali D; Liu, Min M; Wei, Wenyi W; Wei, Zhi Z; Pan, Jingxuan J; Wang, Yongjun Y; Xuan, Zhenyu Z; Hess, Jay J; Hayward, Nicholas K NK; Goding, Colin R CR; Chen, Xiang X; Zhou, Jun J; Cui, Rutao R

Publication Date: 2018-01-17

Variant appearance in text: 225: A51T

PubMed Link: 29343685

Variant Present in the following documents:

• 41467_2017_2687_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: 225: A51T

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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: 225: 151G>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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Mutation Clusters from Cancer Exome.

Genes

Kakushadze, Zura Z; Yu, Willie W

Publication Date: 2017-08-15

Variant appearance in text: 225: A51T

PubMed Link: 28809811

Variant Present in the following documents:

• Main text

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: 151G>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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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: 151G>A

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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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: 151G>A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Cell

Atanur, Santosh S SS; Diaz, Ana Garcia AG; Maratou, Klio K; Sarkis, Allison A; Rotival, Maxime M; Game, Laurence L; Tschannen, Michael R MR; Kaisaki, Pamela J PJ; Otto, Georg W GW; Ma, Man Chun John MC; Keane, Thomas M TM; Hummel, Oliver O; Saar, Kathrin K; Chen, Wei W; Guryev, Victor V; Gopalakrishnan, Kathirvel K; Garrett, Michael R MR; Joe, Bina B; Citterio, Lorena L; Bianchi, Giuseppe G; McBride, Martin M; Dominiczak, Anna A; Adams, David J DJ; Serikawa, Tadao T; Flicek, Paul P; Cuppen, Edwin E; Hubner, Norbert N; Petretto, Enrico E; Gauguier, Dominique D; Kwitek, Anne A; Jacob, Howard H; Aitman, Timothy J TJ

Publication Date: 2013-08-01

Variant appearance in text: 225: 151G>A

PubMed Link: 23890820

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

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