PC c.52_54delinsGAC ;(p.R18D)

Variant ID: 11-66639577-TCG-GTC

NM_001040716.1(PC):c.52_54delinsGAC;(p.R18D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The role of L-arginine metabolism in neurocritical care patients.

Neural Regeneration Research
Mader, Marius Marc-Daniel MM; Czorlich, Patrick P
Publication Date: 2022-07

Variant appearance in text: PC: R18D
PubMed Link: 34916417
Variant Present in the following documents:
  • NRR-17-1446.pdf
View BVdb publication page



The role of L-arginine metabolism in neurocritical care patients.

Neural Regeneration Research
Mader, Marius Marc-Daniel MM; Czorlich, Patrick P
Publication Date: 2022-07

Variant appearance in text: PC: R18D
PubMed Link: 34916417
Variant Present in the following documents:
  • NRR-17-1446.pdf
View BVdb publication page



SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.

Nature Communications
Hou, Guojun G; Harley, Isaac T W ITW; Lu, Xiaoming X; Zhou, Tian T; Xu, Ning N; Yao, Chao C; Qin, Yuting Y; Ouyang, Ye Y; Ma, Jianyang J; Zhu, Xinyi X; Yu, Xiang X; Xu, Hong H; Dai, Dai D; Ding, Huihua H; Yin, Zhihua Z; Ye, Zhizhong Z; Deng, Jun J; Zhou, Mi M; Tang, Yuanjia Y; Namjou, Bahram B; Guo, Ya Y; Weirauch, Matthew T MT; Kottyan, Leah C LC; Harley, John B JB; Shen, Nan N
Publication Date: 2021-01-08

Variant appearance in text: PC: R18D
PubMed Link: 33420081
Variant Present in the following documents:
  • 41467_2020_20460_MOESM2_ESM.pdf
View BVdb publication page