Publications:

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Pathogenic variation types in human genes relate to diseases through Pfam and InterPro mapping.

Frontiers In Molecular Biosciences

Babbi, Giulia G; Savojardo, Castrense C; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R

Publication Date: 2022

Variant appearance in text: TP53: P250R

PubMed Link: 36188216

Variant Present in the following documents:

• Main text

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: TP53: P250R

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 15

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: P250R

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

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Bcl11b/Ctip2 in Skin, Tooth, and Craniofacial System.

Frontiers In Cell And Developmental Biology

Daher, Marie-Thérèse MT; Bausero, Pedro P; Agbulut, Onnik O; Li, Zhenlin Z; Parlakian, Ara A

Publication Date: 2020

Variant appearance in text: p53: P250R

PubMed Link: 33363142

Variant Present in the following documents:

• fcell-08-581674.pdf

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Ultradeep targeted sequencing of circulating tumor DNA in plasma of early and advanced breast cancer.

Cancer Science

Chin, Yoon Ming YM; Takahashi, Yoko Y; Chan, Hiu Ting HT; Otaki, Masumi M; Fujishima, Makoto M; Shibayama, Tomoko T; Miki, Yoshio Y; Ueno, Takayuki T; Nakamura, Yusuke Y; Low, Siew-Kee SK

Publication Date: 2021-01

Variant appearance in text: TP53: P250R

PubMed Link: 33075187

Variant Present in the following documents:

• CAS-112-454-s002.xlsx, sheet 6
• CAS-112-454-s002.xlsx, sheet 9
• CAS-112-454-s002.xlsx, sheet 11

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TP53: P250R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TP53: 749C>G; P250R

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: TP53: P250R

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6

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Targeted genomic profiling identifies frequent deleterious mutations in FAT4 and TP53 genes in HBV-associated hepatocellular carcinoma.

Bmc Cancer

Huang, Fung-Yu FY; Wong, Danny Ka-Ho DK; Tsui, Vivien Wai-Man VW; Seto, Wai-Kay WK; Mak, Lung-Yi LY; Cheung, Tan-To TT; Lai, Keane K-Y KK; Yuen, Man-Fung MF

Publication Date: 2019-08-08

Variant appearance in text: TP53: P250R

PubMed Link: 31395065

Variant Present in the following documents:

• Main text
• 12885_2019_Article_6002.pdf

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: P250R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: P250R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: P250R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Recent advances in the ARID family: focusing on roles in human cancer.

Oncotargets And Therapy

Lin, Chen C; Song, Wei W; Bi, Xinyu X; Zhao, Jianjun J; Huang, Zhen Z; Li, Zhiyu Z; Zhou, Jianguo J; Cai, Jianqiang J; Zhao, Hong H

Publication Date: 2014

Variant appearance in text: p53: P250R

PubMed Link: 24570593

Variant Present in the following documents:

• Main text
• ott-7-315.pdf

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