Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: IGF1R: E1283K; rs45526336

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: IGF1R: E1283K

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Frontiers In Cell And Developmental Biology

Feng, Yuyang Y; Yao, Surui S; Pu, Zhening Z; Cheng, Han H; Fei, Bojian B; Zou, Jian J; Huang, Zhaohui Z

Publication Date: 2021

Variant appearance in text: IGF1R: E1283K; rs45526336

PubMed Link: 34805171

Variant Present in the following documents:

• Main text
• fcell-09-764275.pdf

View BVdb publication page

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Identifying therapeutic drug targets using bidirectional effect genes.

Nature Communications

Estrada, Karol K; Froelich, Steven S; Wuster, Arthur A; Bauer, Christopher R CR; Sterling, Teague T; Clark, Wyatt T WT; Ru, Yuanbin Y; Trinidad, Marena M; Nguyen, Hong Phuc HP; Luu, Amanda R AR; Wendt, Daniel J DJ; Yogalingam, Gouri G; Yu, Guoying Karen GK; LeBowitz, Jonathan H JH; Cardon, Lon R LR

Publication Date: 2021-04-13

Variant appearance in text: IGF1R: 3847G>A; GLU1283LYS

PubMed Link: 33850126

Variant Present in the following documents:

• 41467_2021_21843_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: IGF1R: 3847G>A; E1283K

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs45526336

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget

Lee, Soo Hyun SH; Kim, Jung-Sun JS; Zheng, Siyuan S; Huse, Jason T JT; Bae, Joon Seol JS; Lee, Ji Won JW; Yoo, Keon Hee KH; Koo, Hong Hoe HH; Kyung, Sungkyu S; Park, Woong-Yang WY; Sung, Ki W KW

Publication Date: 2017-07-11

Variant appearance in text: IGF1R: E1283K; rs45526336

PubMed Link: 28521285

Variant Present in the following documents:

• oncotarget-08-45943-s002.xlsx, sheet 2

View BVdb publication page

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A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.

Journal Of Biomedicine & Biotechnology

de Alencar, S A SA; Lopes, Julio C D JC

Publication Date: 2010

Variant appearance in text: rs45526336

PubMed Link: 20625407

Variant Present in the following documents:

• Main text
• JBB2010-715139.pdf

View BVdb publication page

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