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: GC: L320V

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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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GC: 958C>G

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications

Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC

Publication Date: 2021-12-15

Variant appearance in text: GC: Leu320Val

PubMed Link: 34911954

Variant Present in the following documents:

• 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17

View BVdb publication page

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Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications

Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC

Publication Date: 2021-12-15

Variant appearance in text: GC: Leu320Val

PubMed Link: 34911954

Variant Present in the following documents:

• 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17

View BVdb publication page

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: GC: L320V; rs778401994

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.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: GC: Leu320Val

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Nature Genetics

Pol, Arjan A; Renkema, G Herma GH; Tangerman, Albert A; Winkel, Edwin G EG; Engelke, Udo F UF; de Brouwer, Arjan P M APM; Lloyd, Kent C KC; Araiza, Renee S RS; van den Heuvel, Lambert L; Omran, Heymut H; Olbrich, Heike H; Oude Elberink, Marijn M; Gilissen, Christian C; Rodenburg, Richard J RJ; Sass, Jörn Oliver JO; Schwab, K Otfried KO; Schäfer, Hendrik H; Venselaar, Hanka H; Sequeira, J Silvia JS; Op den Camp, Huub J M HJM; Wevers, Ron A RA

Publication Date: 2018-01

Variant appearance in text: GC: L320V

PubMed Link: 29255262

Variant Present in the following documents:

• NIHMS74866-supplement-Supplementary_table_1.xlsx, sheet 2

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: GC: 958C>G

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Engineering non-heme mono- and dioxygenases for biocatalysis.

Computational And Structural Biotechnology Journal

Dror, Adi A; Fishman, Ayelet A

Publication Date: 2012

Variant appearance in text: GC: L320V

PubMed Link: 24688652

Variant Present in the following documents:

• Main text

View BVdb publication page

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