ELN c.196+71G>A

Variant ID: 7-73452140-G-A

NM_000501.3(ELN):c.196+71G>A

This variant was identified in 12 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: rs2301995
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: ELN: 196+71G>A
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs2301995
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ELN: 196+71G>A; rs2301995
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Plasma Levels of Matrix Metalloprotease MMP-9 and Tissue Inhibitor TIMP-1 in Caucasian Patients with Polypoidal Choroidal Vasculopathy.

Vision (Basel, Switzerland)
Sørensen, Jakob Ø JØ; Subhi, Yousif Y; Molbech, Christopher R CR; Krogh Nielsen, Marie M; Sørensen, Torben L TL
Publication Date: 2020-05-15

Variant appearance in text: rs2301995
PubMed Link: 32429088
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ELN: 196+71G>A; rs2301995
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs2301995
PubMed Link: 30008175
Variant Present in the following documents:
  • MGG3-6-749-s003.xlsx, sheet 1
View BVdb publication page



The association of elastin gene variants with two angiographic subtypes of polypoidal choroidal vasculopathy.

Plos One
Yanagisawa, Suiho S; Sakurada, Yoichi Y; Miki, Akiko A; Matsumiya, Wataru W; Imoto, Issei I; Honda, Shigeru S
Publication Date: 2015

Variant appearance in text: rs2301995
PubMed Link: 25775011
Variant Present in the following documents:
  • Main text
  • pone.0120643.pdf
View BVdb publication page



Genetic associations in polypoidal choroidal vasculopathy: a systematic review and meta-analysis.

Molecular Vision
Chen, Haoyu H; Liu, Ke K; Chen, Li Jia LJ; Hou, Ping P; Chen, Weiqi W; Pang, Chi Pui CP
Publication Date: 2012

Variant appearance in text: rs2301995
PubMed Link: 22509112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population.

Molecular Vision
Tanaka, Koji K; Nakayama, Tomohiro T; Yuzawa, Mitsuko M; Wang, Zhaoxia Z; Kawamura, Akiyuki A; Mori, Ryusaburou R; Nakashizuka, Hiroyuki H; Sato, Naoyuki N; Mizutani, Yoshihiro Y
Publication Date: 2011

Variant appearance in text: rs2301995
PubMed Link: 22065928
Variant Present in the following documents:
  • Main text
  • mv-v17-2751.pdf
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: rs2301995
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: rs2301995
PubMed Link: 17672902
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-49.pdf
View BVdb publication page