UQCC1 c.573+8864G>C

Variant ID: 20-33926103-C-G

NM_018244.4(UQCC1):c.573+8864G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2248393
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide association study identified UQCC locus for spine bone size in humans.

Bone
Deng, Fei-Yan FY; Dong, Shan-Shan SS; Xu, Xiang-Hong XH; Liu, Yong-Jun YJ; Liu, Yao-Zhong YZ; Shen, Hui H; Tian, Qing Q; Li, Jian J; Deng, Hong-Wen HW
Publication Date: 2013-03

Variant appearance in text: rs2248393
PubMed Link: 23207799
Variant Present in the following documents:
  • Main text
View BVdb publication page