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: R232H

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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Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances

Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D

Publication Date: 2022-09-27

Variant appearance in text: GC: R232H

PubMed Link: 35816682

Variant Present in the following documents:

• advancesADV2022008355-suppl2.xlsx, sheet 11

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GC: Arg232His

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in STING Affect Human Innate Immune Responses to Poxviruses.

Frontiers In Immunology

Kennedy, Richard B RB; Haralambieva, Iana H IH; Ovsyannikova, Inna G IG; Voigt, Emily A EA; Larrabee, Beth R BR; Schaid, Daniel J DJ; Zimmermann, Michael T MT; Oberg, Ann L AL; Poland, Gregory A GA

Publication Date: 2020

Variant appearance in text: GC: R232H

PubMed Link: 33154747

Variant Present in the following documents:

• Main text

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: GC: R232H

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 2
• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency.

Scientific Reports

Rigobello, Chiara C; Baraldo, Simonetta S; Tinè, Mariaenrica M; Ferrarotti, Ilaria I; Corsico, Angelo Guido AG; Bazzan, Erica E; Turato, Graziella G; Balestro, Elisabetta E; Biondini, Davide D; Valle, Giorgio G; Saetta, Marina M; Cosio, Manuel G MG

Publication Date: 2019-09-11

Variant appearance in text: GC: R232H

PubMed Link: 31511551

Variant Present in the following documents:

• Main text
• 41598_2019_Article_49409.pdf

View BVdb publication page

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Reciprocal regulation of STING and TCR signaling by mTORC1 for T-cell activation and function.

Life Science Alliance

Imanishi, Takayuki T; Unno, Midori M; Kobayashi, Wakana W; Yoneda, Natsumi N; Matsuda, Satoshi S; Ikeda, Kazutaka K; Hoshii, Takayuki T; Hirao, Atsushi A; Miyake, Kensuke K; Barber, Glen N GN; Arita, Makoto M; Ishii, Ken J KJ; Akira, Shizuo S; Saito, Takashi T

Publication Date: 2019-02

Variant appearance in text: GC: R232H

PubMed Link: 30683688

Variant Present in the following documents:

• LSA-2018-00282.pdf

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: Arg232His

PubMed Link: 29703791

Variant Present in the following documents:

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

View BVdb publication page

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Detection of novel QTLs qDTH4.5 and qDTH6.3, which confer late heading under short-day conditions, by SSR marker-based and QTL-seq analysis.

Breeding Science

Ogiso-Tanaka, Eri E; Tanaka, Tsuyoshi T; Tanaka, Keisuke K; Nonoue, Yasunori Y; Sasaki, Takuji T; Fushimi, Erina E; Koide, Yohei Y; Okumoto, Yutaka Y; Yano, Masahiro M; Saito, Hiroki H

Publication Date: 2017-03

Variant appearance in text: GC: R232H

PubMed Link: 28588386

Variant Present in the following documents:

• 67_16096_2.pdf

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: GC: R232H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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The innate immune DNA sensor cGAS produces a noncanonical cyclic dinucleotide that activates human STING.

Cell Reports

Diner, Elie J EJ; Burdette, Dara L DL; Wilson, Stephen C SC; Monroe, Kathryn M KM; Kellenberger, Colleen A CA; Hyodo, Mamoru M; Hayakawa, Yoshihiro Y; Hammond, Ming C MC; Vance, Russell E RE

Publication Date: 2013-05-30

Variant appearance in text: GC: R232H

PubMed Link: 23707065

Variant Present in the following documents:

• Main text

View BVdb publication page

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Galectin 8 targets damaged vesicles for autophagy to defend cells against bacterial invasion.

Nature

Thurston, Teresa L M TL; Wandel, Michal P MP; von Muhlinen, Natalia N; Foeglein, Agnes A; Randow, Felix F

Publication Date: 2012-01-15

Variant appearance in text: GC: R232H

PubMed Link: 22246324

Variant Present in the following documents:

• Main text

View BVdb publication page

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