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: TG: 919A>G; T307A

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: TG: Thr307Ala

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies.

Genomics & Informatics

Kim, Gyungbu G; Lee, Yoonsuk Y; Park, Jeong Ho JH; Kim, Dongmin D; Lee, Wonseok W

Publication Date: 2022-12

Variant appearance in text: TG: Thr307Ala

PubMed Link: 36617656

Variant Present in the following documents:

• gi-22046.pdf

View BVdb publication page

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Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: TG: 919A>G

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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The impact of male factors and their correct and early diagnosis in the infertile couple's pathway: 2021 perspectives.

Journal Of Endocrinological Investigation

Pallotti, F F; Barbonetti, A A; Rastrelli, G G; Santi, D D; Corona, G G; Lombardo, F F

Publication Date: 2022-10

Variant appearance in text: TG: 919A>G

PubMed Link: 35349114

Variant Present in the following documents:

• 40618_2022_Article_1778.pdf

View BVdb publication page

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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O

Publication Date: 2021-12-28

Variant appearance in text: TG: 919A>G; Thr307Ala

PubMed Link: 34930847

Variant Present in the following documents:

• pnas.2115140118.sd03.xlsx, sheet 1

View BVdb publication page

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De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca2+ regulation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Halvorsen, Matthew M; Gould, Laura L; Wang, Xiaohan X; Grant, Gariel G; Moya, Raquel R; Rabin, Rachel R; Ackerman, Michael J MJ; Tester, David J DJ; Lin, Peter T PT; Pappas, John G JG; Maurano, Matthew T MT; Goldstein, David B DB; Tsien, Richard W RW; Devinsky, Orrin O

Publication Date: 2021-12-28

Variant appearance in text: TG: 919A>G; Thr307Ala

PubMed Link: 34930847

Variant Present in the following documents:

• pnas.2115140118.sd03.xlsx, sheet 1

View BVdb publication page

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Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?

Frontiers In Immunology

Zeber-Lubecka, Natalia N; Hennig, Ewa E EE

Publication Date: 2021

Variant appearance in text: TG: Thr307Ala

PubMed Link: 33746952

Variant Present in the following documents:

• Main text
• fimmu-12-606620.pdf

View BVdb publication page

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: TG: 919A>G; Thr307Ala

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Fc-Engineering for Modulated Effector Functions-Improving Antibodies for Cancer Treatment.

Antibodies (Basel, Switzerland)

Liu, Rena R; Oldham, Robert J RJ; Teal, Emma E; Beers, Stephen A SA; Cragg, Mark S MS

Publication Date: 2020-11-17

Variant appearance in text: TG: T307A

PubMed Link: 33212886

Variant Present in the following documents:

• antibodies-09-00064.pdf

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: TG: Thr307Ala

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 4

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: TG: 919A>G

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: TG: Thr307Ala

PubMed Link: 29703791

Variant Present in the following documents:

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

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: TG: 919A>G; T307A

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Culture-independent genome sequencing of Coxiella burnetii from a native heart valve of a Tunisian patient with severe infective endocarditis.

New Microbes And New Infections

Delaloye, J J; Pillonel, T T; Smaoui, M M; Znazen, A A; Abid, L L; Greub, G G

Publication Date: 2018-01

Variant appearance in text: TG: 919A>G

PubMed Link: 29201381

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: TG: Thr307Ala

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: TG: 919A>G; Thr307Ala

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TG: 919A>G

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TG: T307A

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: a cross-sectional study.

Reproductive Biology And Endocrinology : Rb&E

Singhasena, Wanakan W; Pantasri, Tawiwan T; Piromlertamorn, Waraporn W; Samchimchom, Sudarat S; Vutyavanich, Teraporn T

Publication Date: 2014-09-02

Variant appearance in text: TG: Thr307Ala

PubMed Link: 25179311

Variant Present in the following documents:

• 12958_2014_Article_1257.pdf

View BVdb publication page

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Combined glyco- and protein-Fc engineering simultaneously enhance cytotoxicity and half-life of a therapeutic antibody.

Mabs

Monnet, Céline C; Jorieux, Sylvie S; Souyris, Nathalie N; Zaki, Ouafa O; Jacquet, Alexandra A; Fournier, Nathalie N; Crozet, Fabien F; de Romeuf, Christophe C; Bouayadi, Khalil K; Urbain, Rémi R; Behrens, Christian K CK; Mondon, Philippe P; Fontayne, Alexandre A

Publication Date: 2014

Variant appearance in text: TG: T307A

PubMed Link: 24492301

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.

Bmc Genomics

Wahlestedt, Claes C; Brookes, Anthony J AJ; Mottagui-Tabar, Salim S

Publication Date: 2004-12-04

Variant appearance in text: TG: T307A

PubMed Link: 15579207

Variant Present in the following documents:

View BVdb publication page

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