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: 365G>A

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: GC: 365G>A

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

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Immunotherapy for bilateral multiple ground glass opacities: An exploratory study for synchronous multiple primary lung cancer.

Frontiers In Immunology

Xu, Lin L; Shi, Meiqi M; Wang, Siwei S; Li, Ming M; Yin, Wenda W; Zhang, Jingyuan J; Zhu, Jun J; Jiang, Feng F; Xia, Wenjia W; Qiu, Ninglei N; Zhang, Zhi Z; Huang, Jianfeng J; Ma, Zhifei Z; Meng, Fanchen F; Zhu, Hongyu H; Dong, Guozhang G; Wang, Jie J; Yin, Rong R

Publication Date: 2022

Variant appearance in text: GC: 365G>A

PubMed Link: 36389707

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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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: 365G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Quantitative trait locus mapping combined with variant and transcriptome analyses identifies a cluster of gene candidates underlying the variation in leaf wax between upland and lowland switchgrass ecotypes.

Tag. Theoretical And Applied Genetics. Theoretische Und Angewandte Genetik

Qi, Peng P; Pendergast, Thomas H TH; Johnson, Alex A; Bahri, Bochra A BA; Choi, Soyeon S; Missaoui, Ali A; Devos, Katrien M KM

Publication Date: 2021-07

Variant appearance in text: GC: 365G>A

PubMed Link: 33760937

Variant Present in the following documents:

• 122_2021_3798_MOESM22_ESM.xlsx, sheet 2

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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: GC: 365G>A

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: GC: 365G>A

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 11

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Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports

Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H

Publication Date: 2020-09

Variant appearance in text: GC: C122Y

PubMed Link: 32705272

Variant Present in the following documents:

• Supplementary_Data1.xlsx, sheet 1

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Genomic analysis reveals variant association with high altitude adaptation in native chickens.

Scientific Reports

Kharrati-Koopaee, Hamed H; Ebrahimie, Esmaeil E; Dadpasand, Mohammad M; Niazi, Ali A; Esmailizadeh, Ali A

Publication Date: 2019-06-25

Variant appearance in text: GC: 365G>A

PubMed Link: 31239472

Variant Present in the following documents:

• 41598_2019_45661_MOESM10_ESM.xls, sheet 1

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: 365G>A

PubMed Link: 29245897

Variant Present in the following documents:

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

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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: GC: 365G>A

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: GC: C122Y

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.

Bmc Genetics

Le Maréchal, C C; Chen, J M JM; Quéré, I I; Raguénès, O O; Férec, C C; Auroux, J J

Publication Date: 2001

Variant appearance in text: GC: 365G>A

PubMed Link: 11734061

Variant Present in the following documents:

• Main text

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