COL27A1 c.3988-844T>G

Variant ID: 9-117049891-T-G

NM_032888.2(COL27A1):c.3988-844T>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Defining the molecular signatures of Achilles tendinopathy and anterior cruciate ligament ruptures: A whole-exome sequencing approach.

Plos One
Gibbon, Andrea A; Saunders, Colleen J CJ; Collins, Malcolm M; Gamieldien, Junaid J; September, Alison V AV
Publication Date: 2018

Variant appearance in text: rs946053
PubMed Link: 30359423
Variant Present in the following documents:
  • Main text
  • pone.0205860.pdf
View BVdb publication page



Genomic risk prediction of aromatase inhibitor-related arthralgia in patients with breast cancer using a novel machine-learning algorithm.

Cancer Medicine
Reinbolt, Raquel E RE; Sonis, Stephen S; Timmers, Cynthia D CD; Fernández-Martínez, Juan Luis JL; Cernea, Ana A; de Andrés-Galiana, Enrique J EJ; Hashemi, Sepehr S; Miller, Karin K; Pilarski, Robert R; Lustberg, Maryam B MB
Publication Date: 2018-01

Variant appearance in text: rs946053
PubMed Link: 29168353
Variant Present in the following documents:
  • Main text
  • CAM4-7-240.pdf
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs946053
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Biomedical Risk Factors of Achilles Tendinopathy in Physically Active People: a Systematic Review.

Sports Medicine - Open
Kozlovskaia, Maria M; Vlahovich, Nicole N; Ashton, Kevin J KJ; Hughes, David C DC
Publication Date: 2017-12

Variant appearance in text: rs946053
PubMed Link: 28523640
Variant Present in the following documents:
  • Main text
  • 40798_2017_Article_87.pdf
View BVdb publication page



Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses.

Scientific Reports
Chen, Geng G; Yu, Dianke D; Chen, Jiwei J; Cao, Ruifang R; Yang, Juan J; Wang, Huan H; Ji, Xiangjun X; Ning, Baitang B; Shi, Tieliu T
Publication Date: 2015-03-30

Variant appearance in text: rs946053
PubMed Link: 25819875
Variant Present in the following documents:
  • srep09453-s1.pdf
View BVdb publication page



Defects in tendon, ligament, and enthesis in response to genetic alterations in key proteoglycans and glycoproteins: a review.

Arthritis
Juneja, Subhash C SC; Veillette, Christian C
Publication Date: 2013

Variant appearance in text: rs946053
PubMed Link: 24324885
Variant Present in the following documents:
  • Main text
  • ARTH2013-154812.pdf
View BVdb publication page