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: 280A>G; K94E

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: GC: 280A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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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: GC: 280A>G

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 3

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Associations between gene polymorphisms and selected meat traits in cattle - A review.

Animal Bioscience

Zalewska, Magdalena M; Puppel, Kamila K; Sakowski, Tomasz T

Publication Date: 2021-09

Variant appearance in text: GC: 280A>G

PubMed Link: 33561332

Variant Present in the following documents:

• Main text
• ab-20-0672.pdf

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: GC: 280A>G

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.

Journal Of Inherited Metabolic Disease

Ng, Bobby G BG; Eklund, Erik A EA; Shiryaev, Sergey A SA; Dong, Yin Y YY; Abbott, Mary-Alice MA; Asteggiano, Carla C; Bamshad, Michael J MJ; Barr, Eileen E; Bernstein, Jonathan A JA; Chelakkadan, Shabeed S; Christodoulou, John J; Chung, Wendy K WK; Ciliberto, Michael A MA; Cousin, Janice J; Gardiner, Fiona F; Ghosh, Suman S; Graf, William D WD; Grunewald, Stephanie S; Hammond, Katherine K; Hauser, Natalie S NS; Hoganson, George E GE; Houck, Kimberly M KM; Kohler, Jennefer N JN; Morava, Eva E; Larson, Austin A AA; Liu, Pengfei P; Madathil, Sujana S; McCormack, Colleen C; Meeks, Naomi J L NJL; Miller, Rebecca R; Monaghan, Kristin G KG; Nickerson, Deborah A DA; Palculict, Timothy Blake TB; Papazoglu, Gabriela Magali GM; Pletcher, Beth A BA; Scheffer, Ingrid E IE; Schenone, Andrea Beatriz AB; Schnur, Rhonda E RE; Si, Yue Y; Rowe, Leah J LJ; Serrano Russi, Alvaro H AH; Russo, Rossana Sanchez RS; Thabet, Farouq F; Tuite, Allysa A; Villanueva, María Mercedes MM; Wang, Raymond Y RY; Webster, Richard I RI; Wilson, Dorcas D; Zalan, Alice A; , ; Wolfe, Lynne A LA; Rosenfeld, Jill A JA; Rhodes, Lindsay L; Freeze, Hudson H HH

Publication Date: 2020-11

Variant appearance in text: GC: K94E

PubMed Link: 32681751

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: GC: Lys94Glu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 8

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: GC: 280A>G

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: GC: 280A>G

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.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: GC: 280A>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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The Integration and Excision of CTnDOT.

Microbiology Spectrum

Wood, Margaret M MM; Gardner, Jeffrey F JF

Publication Date: 2015-04

Variant appearance in text: GC: K94E

PubMed Link: 26104696

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of the SNP (Single Nucleotide Polymorphism) for Fatty Acid Composition Associated with Beef Flavor-related FABP4 (Fatty Acid Binding Protein 4) in Korean Cattle.

Asian-Australasian Journal Of Animal Sciences

Oh, Dong-Yep DY; Lee, Yoon-Seok YS; La, Boo-Mi BM; Yeo, Jung-Sou JS

Publication Date: 2012-07

Variant appearance in text: GC: 280A>G

PubMed Link: 25049644

Variant Present in the following documents:

• Main text
• ajas-25-7-913-2.pdf

View BVdb publication page

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Resolution of Holliday junction recombination intermediates by wild-type and mutant IntDOT proteins.

Journal Of Bacteriology

Kim, Seyeun S; Gardner, Jeffrey F JF

Publication Date: 2011-03

Variant appearance in text: GC: K94E

PubMed Link: 21216992

Variant Present in the following documents:

• Main text

View BVdb publication page

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