TGFBR3 c.1566+55C>G

Variant ID: 1-92184814-G-C

NM_003243.4(TGFBR3):c.1566+55C>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic Variants in the Regulatory T cell-Related Pathway and Colorectal Cancer Prognosis.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Neumeyer, Sonja S; Hua, Xinwei X; Seibold, Petra P; Jansen, Lina L; Benner, Axel A; Burwinkel, Barbara B; Halama, Niels N; Berndt, Sonja I SI; Phipps, Amanda I AI; Sakoda, Lori C LC; Schoen, Robert E RE; Slattery, Martha L ML; Chan, Andrew T AT; Gala, Manish M; Joshi, Amit D AD; Ogino, Shuji S; Song, Mingyang M; Herpel, Esther E; Bläker, Hendrik H; Kloor, Matthias M; Scherer, Dominique D; Ulrich, Alexis A; Ulrich, Cornelia M CM; Win, Aung K AK; Figueiredo, Jane C JC; Hopper, John L JL; Macrae, Finlay F; Milne, Roger L RL; Giles, Graham G GG; Buchanan, Daniel D DD; Peters, Ulrike U; Hoffmeister, Michael M; Brenner, Hermann H; Newcomb, Polly A PA; Chang-Claude, Jenny J
Publication Date: 2020-12

Variant appearance in text: rs7524066
PubMed Link: 33008876
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Single-Nucleotide Polymorphism (rs1131243) of the Transforming Growth Factor Beta Signaling Pathway Contributes to Risk of Acute Rejection in Chinese Renal Transplant Recipients.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zheng, Ming M; Yang, Haiwei H; Li, Wencheng W; Zhou, Jiajun J; Wei, Jintao J; Wang, Zijie Z; Guo, Miao M; Chen, Hao H; Sun, Li L; Han, Zhijian Z; Tao, Jun J; Ju, Xiaobing X; Tan, Ruoyun R; Wei, Jifu J; Gu, Min M
Publication Date: 2019-12-01

Variant appearance in text: rs7524066
PubMed Link: 31786580
Variant Present in the following documents:
  • Main text
  • medscimonit-25-9138.pdf
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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7524066
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs7524066
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
View BVdb publication page



TGFBR3 variation is not a common cause of Marfan-like syndrome and Loeys-Dietz-like syndrome.

Journal Of Negative Results In Biomedicine
Singh, Krishna K KK; Schmidtke, Joerg J; Keyser, Britta B; Arslan-Kirchner, Mine M
Publication Date: 2012-02-02

Variant appearance in text: rs7524066
PubMed Link: 22300218
Variant Present in the following documents:
  • Main text
  • 1477-5751-11-9.pdf
View BVdb publication page