Publications:

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: 225: 349G>T

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 4

View BVdb publication page

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A SARS-CoV-2 Delta variant containing mutation in the probe binding region used for RT-qPCR test in Japan exhibited atypical PCR amplification and might induce false negative result.

Journal Of Infection And Chemotherapy : Official Journal Of The Japan Society Of Chemotherapy

Rajib, Samiul Alam SA; Ogi, Yasuhiro Y; Hossain, Md Belal MB; Ikeda, Terumasa T; Tanaka, Eiichi E; Kawaguchi, Tatsuya T; Satou, Yorifumi Y

Publication Date: 2022-05

Variant appearance in text: 225: V117L

PubMed Link: 35144878

Variant Present in the following documents:

• mmc2.xls, sheet 1

View BVdb publication page

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Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology

Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S

Publication Date: 2022-02

Variant appearance in text: 225: 349G>T

PubMed Link: 34863035

Variant Present in the following documents:

• MOL2-16-665-s001.xlsx, sheet 5

View BVdb publication page

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Mycobacterium leprae diversity and population dynamics in medieval Europe from novel ancient genomes.

Bmc Biology

Pfrengle, Saskia S; Neukamm, Judith J; Guellil, Meriam M; Keller, Marcel M; Molak, Martyna M; Avanzi, Charlotte C; Kushniarevich, Alena A; Montes, Núria N; Neumann, Gunnar U GU; Reiter, Ella E; Tukhbatova, Rezeda I RI; Berezina, Nataliya Y NY; Buzhilova, Alexandra P AP; Korobov, Dmitry S DS; Suppersberger Hamre, Stian S; Matos, Vitor M J VMJ; Ferreira, Maria T MT; González-Garrido, Laura L; Wasterlain, Sofia N SN; Lopes, Célia C; Santos, Ana Luisa AL; Antunes-Ferreira, Nathalie N; Duarte, Vitória V; Silva, Ana Maria AM; Melo, Linda L; Sarkic, Natasa N; Saag, Lehti L; Tambets, Kristiina K; Busso, Philippe P; Cole, Stewart T ST; Avlasovich, Alexei A; Roberts, Charlotte A CA; Sheridan, Alison A; Cessford, Craig C; Robb, John J; Krause, Johannes J; Scheib, Christiana L CL; Inskip, Sarah A SA; Schuenemann, Verena J VJ

Publication Date: 2021-10-05

Variant appearance in text: 225: 349G>T

PubMed Link: 34610848

Variant Present in the following documents:

• 12915_2021_1120_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A world-wide analysis of reduced sensitivity to DMI fungicides in the banana pathogen Pseudocercospora fijiensis.

Pest Management Science

Chong, Pablo P; Essoh, Josué Ngando JN; Arango Isaza, Rafael E RE; Keizer, Paul P; Stergiopoulos, Ioannis I; Seidl, Michael F MF; Guzman, Mauricio M; Sandoval, Jorge J; Verweij, Paul E PE; Scalliet, Gabriel G; Sierotzski, Helge H; de Lapeyre de Bellaire, Luc L; Crous, Pedro W PW; Carlier, Jean J; Cros, Sandrine S; Meijer, Harold J G HJG; Peralta, Esther Lilia EL; Kema, Gert H J GHJ

Publication Date: 2021-07

Variant appearance in text: 225: V117L

PubMed Link: 33764651

Variant Present in the following documents:

• PS-77-3273-s005.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: 225: 349G>T

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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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 349G>T

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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: 225: 349G>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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The expanding landscape of 'oncohistone' mutations in human cancers.

Nature

Nacev, Benjamin A BA; Feng, Lijuan L; Bagert, John D JD; Lemiesz, Agata E AE; Gao, JianJiong J; Soshnev, Alexey A AA; Kundra, Ritika R; Schultz, Nikolaus N; Muir, Tom W TW; Allis, C David CD

Publication Date: 2019-03

Variant appearance in text: 225: V117L

PubMed Link: 30894748

Variant Present in the following documents:

• NIHMS1522658-supplement-Supp_Table_1.xlsx, sheet 1

View BVdb publication page

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Integrated genomic and metabolomic profiling of ISC1, an emerging Leishmania donovani population in the Indian subcontinent.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases

Cuypers, Bart B; Berg, Maya M; Imamura, Hideo H; Dumetz, Franck F; De Muylder, Géraldine G; Domagalska, Malgorzata A MA; Rijal, Suman S; Bhattarai, Narayan Raj NR; Maes, Ilse I; Sanders, Mandy M; Cotton, James A JA; Meysman, Pieter P; Laukens, Kris K; Dujardin, Jean-Claude JC

Publication Date: 2018-08

Variant appearance in text: 225: 349G>T

PubMed Link: 29679745

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genotypic characterization of UL23 thymidine kinase and UL30 DNA polymerase of clinical isolates of herpes simplex virus: natural polymorphism and mutations associated with resistance to antivirals.

Antimicrobial Agents And Chemotherapy

Burrel, Sonia S; Deback, Claire C; Agut, Henri H; Boutolleau, David D

Publication Date: 2010-11

Variant appearance in text: 225: V117L

PubMed Link: 20733037

Variant Present in the following documents:

• Main text

View BVdb publication page

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