Publications:

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: 225: T231M

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Embeddings from protein language models predict conservation and variant effects.

Human Genetics

Marquet, Céline C; Heinzinger, Michael M; Olenyi, Tobias T; Dallago, Christian C; Erckert, Kyra K; Bernhofer, Michael M; Nechaev, Dmitrii D; Rost, Burkhard B

Publication Date: 2022-10

Variant appearance in text: 225: T231M

PubMed Link: 34967936

Variant Present in the following documents:

• 439_2021_2411_MOESM3_ESM.xlsx, sheet 34

View BVdb publication page

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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lyra, Paulo C M PCM; Nepomuceno, Thales C TC; de Souza, Marcele L M MLM; Machado, Géssica F GF; Veloso, Mariana F MF; Henriques, Taciane B TB; Dos Santos, Diandra Z DZ; Ribeiro, Iuly G IG; Ribeiro, Roberto S RS; Rangel, Leticia B A LBA; Richardson, Marcy M; Iversen, Edwin S ES; Goldgar, David D; Couch, Fergus J FJ; Carvalho, Marcelo A MA; Monteiro, Alvaro N A ANA

Publication Date: 2021-02

Variant appearance in text: 225: T231M

PubMed Link: 33087888

Variant Present in the following documents:

• 41436_2020_991_MOESM1_ESM.xlsx, sheet 12
• 41436_2020_991_MOESM1_ESM.xlsx, sheet 10
• 41436_2020_991_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Unpaired Extracellular Cysteine Mutations of CSF3R Mediate Gain or Loss of Function.

Cancer Research

Zhang, Haijiao H; Means, Sophie S; Schultz, Anna Reister AR; Watanabe-Smith, Kevin K; Medeiros, Bruno C BC; Bottomly, Daniel D; Wilmot, Beth B; McWeeney, Shannon K SK; Kükenshöner, Tim T; Hantschel, Oliver O; Tyner, Jeffrey W JW

Publication Date: 2017-08-15

Variant appearance in text: 225: T231M

PubMed Link: 28652245

Variant Present in the following documents:

• Main text

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: Thr231Met

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports

Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V

Publication Date: 2015-10-13

Variant appearance in text: 225: T231M

PubMed Link: 26440892

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: 225: T231M

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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