Publications:

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Variant Spectrum of von Hippel-Lindau (VHL) disease and its genomic heterogeneity in Japan.

Human Molecular Genetics

Tamura, Kenji K; Kanazashi, Yuki Y; Kawada, Chiaki C; Sekine, Yuya Y; Maejima, Kazuhiro K; Ashida, Shingo S; Karashima, Takashi T; Kojima, Shohei S; Parrish, Nickolas F NF; Kosugi, Shunichi S; Terao, Chikashi C; Sasagawa, Shota S; Fujita, Masashi M; Johnson, Todd A TA; Momozawa, Yukihide Y; Inoue, Keiji K; Shuin, Taro T; Nakagawa, Hidewaki H

Publication Date: 2023-03-11

Variant appearance in text: 225: 358A>G

PubMed Link: 36905328

Variant Present in the following documents:

• suple_tables_vhl_v6_0_ddad039.xlsx, sheet 2

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: 225: 358A>G

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: 358A>G

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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TP53 Mutations Identified Using NGS Comprise the Overwhelming Majority of TP53 Disruptions in CLL: Results From a Multicentre Study.

Frontiers In Oncology

Catherwood, Mark A MA; Wren, Dorte D; Chiecchio, Laura L; Cavalieri, Doriane D; Donaldson, David D; Lawless, Sarah S; ElHassadi, Ezzat E; Hayat, Amjad A; Cahill, Mary R MR; O'Shea, Derville D; Sargent, Jeremy J; Stewart, Peter P; Maurya, Manisha M; Quinn, John J; Murphy, Philip P; de Castro, David Gonzalez DG; Mills, Ken K; Cross, Nicholas C P NCP; Forconi, Francesco F; Iyengar, Sunil S; Schuh, Anna A; Thornton, Patrick P

Publication Date: 2022

Variant appearance in text: 225: 358A>G

PubMed Link: 35837095

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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: 358A>G

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: S120G

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: S120G

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

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: 358A>G

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A vaccine-based nanosystem for initiating innate immunity and improving tumor immunotherapy.

Nature Communications

Zheng, Di-Wei DW; Gao, Fan F; Cheng, Qian Q; Bao, Peng P; Dong, Xue X; Fan, Jin-Xuan JX; Song, Wen W; Zeng, Xuan X; Cheng, Si-Xue SX; Zhang, Xian-Zheng XZ

Publication Date: 2020-04-24

Variant appearance in text: 225: S120G

PubMed Link: 32332752

Variant Present in the following documents:

• 41467_2020_15927_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

International Journal Of Molecular Sciences

Sarparanta, Jaakko J; Jonson, Per Harald PH; Kawan, Sabita S; Udd, Bjarne B

Publication Date: 2020-02-19

Variant appearance in text: 225: 358A>G

PubMed Link: 32093037

Variant Present in the following documents:

• Main text

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: 358A>G

PubMed Link: 32045463

Variant Present in the following documents:

• pone.0229020.s004.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: 358A>G

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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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: 358A>G

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, 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: 358A>G

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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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: 225: 358A>G

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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