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: 53A>C

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: 53A>C

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Effect of Mutations in GvpJ and GvpM on Gas Vesicle Formation of Halobacterium salinarum.

Frontiers In Microbiology

Jost, Alisa A; Knitsch, Regine R; Völkner, Kerstin K; Pfeifer, Felicitas F

Publication Date: 2021

Variant appearance in text: GC: E18A

PubMed Link: 34975818

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.

The Journal Of Experimental Medicine

Li, Juan J; Lei, Wei-Te WT; Zhang, Peng P; Rapaport, Franck F; Seeleuthner, Yoann Y; Lyu, Bingnan B; Asano, Takaki T; Rosain, Jérémie J; Hammadi, Boualem B; Zhang, Yu Y; Pelham, Simon J SJ; Spaan, András N AN; Migaud, Mélanie M; Hum, David D; Bigio, Benedetta B; Chrabieh, Maya M; Béziat, Vivien V; Bustamante, Jacinta J; Zhang, Shen-Ying SY; Jouanguy, Emmanuelle E; Boisson-Dupuis, Stephanie S; El Baghdadi, Jamila J; Aimanianda, Vishukumar V; Thoma, Katharina K; Fliegauf, Manfred M; Grimbacher, Bodo B; Korganow, Anne-Sophie AS; Saunders, Carol C; Rao, V Koneti VK; Uzel, Gulbu G; Freeman, Alexandra F AF; Holland, Steven M SM; Su, Helen C HC; Cunningham-Rundles, Charlotte C; Fieschi, Claire C; Abel, Laurent L; Puel, Anne A; Cobat, Aurélie A; Casanova, Jean-Laurent JL; Zhang, Qian Q; Boisson, Bertrand B

Publication Date: 2021-11-01

Variant appearance in text: GC: 53A>C

PubMed Link: 34473196

Variant Present in the following documents:

• JEM_20210566_TableS1.xlsx, sheet 1

View BVdb publication page

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Knock-in and precise nucleotide substitution using near-PAMless engineered Cas9 variants in Dictyostelium discoideum.

Scientific Reports

Asano, Yuu Y; Yamashita, Kensuke K; Hasegawa, Aoi A; Ogasawara, Takanori T; Iriki, Hoshie H; Muramoto, Tetsuya T

Publication Date: 2021-05-27

Variant appearance in text: GC: E18A

PubMed Link: 34045481

Variant Present in the following documents:

• Main text
• 41598_2021_Article_89546.pdf

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: GC: 53A>C; E18A

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM6_ESM.xls, sheet 1

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: GC: 53A>C

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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The CaV2α1 EF-hand F helix tyrosine, a highly conserved locus for GPCR inhibition of CaV2 channels.

Scientific Reports

Dunn, Tyler W TW; Fan, Xiaotang X; Ase, Ariel R AR; Séguéla, Philippe P; Sossin, Wayne S WS

Publication Date: 2018-02-19

Variant appearance in text: GC: e18a

PubMed Link: 29459734

Variant Present in the following documents:

• Main text
• 41598_2018_Article_21586.pdf

View BVdb publication page

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Mutually exclusive splicing regulates the Nav 1.6 sodium channel function through a combinatorial mechanism that involves three distinct splicing regulatory elements and their ligands.

Nucleic Acids Research

Zubović, Lorena L; Baralle, Marco M; Baralle, Francisco E FE

Publication Date: 2012-07

Variant appearance in text: GC: E18A

PubMed Link: 22434879

Variant Present in the following documents:

• Main text
• gks249.pdf

View BVdb publication page

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