ELN c.2087-34C>T

Variant ID: 7-73481028-C-T

NM_000501.3(ELN):c.2087-34C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3757587
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: rs3757587
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s003.xlsx, sheet 1
View BVdb publication page



Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma.

Journal Of Glaucoma
Fan, Bao Jian BJ; Figuieredo Sena, Dayse R DR; Pasquale, Louis R LR; Grosskreutz, Cynthia L CL; Rhee, Douglas J DJ; Chen, Teresa C TC; Delbono, Elizabeth A EA; Haines, Jonathan L JL; Wiggs, Janey L JL
Publication Date: 2010-09

Variant appearance in text: rs3757587
PubMed Link: 20051886
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.

American Journal Of Respiratory Cell And Molecular Biology
Cho, Michael H MH; Ciulla, Dawn M DM; Klanderman, Barbara J BJ; Hersh, Craig P CP; Litonjua, Augusto A AA; Sparrow, David D; Raby, Benjamin A BA; Silverman, Edwin K EK
Publication Date: 2009-06

Variant appearance in text: rs3757587
PubMed Link: 19029017
Variant Present in the following documents:
  • Main text
View BVdb publication page



Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes.

Bmc Medical Genetics
Kaushal, Ritesh R; Woo, Daniel D; Pal, Prodipto P; Haverbusch, Mary M; Xi, Huifeng H; Moomaw, Charles C; Sekar, Padmini P; Kissela, Brett B; Kleindorfer, Dawn D; Flaherty, Matthew M; Sauerbeck, Laura L; Chakraborty, Ranajit R; Broderick, Joseph J; Deka, Ranjan R
Publication Date: 2007-07-31

Variant appearance in text: rs3757587
PubMed Link: 17672902
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-49.pdf
View BVdb publication page