GPATCH1 c.1286-1300G>T

Variant ID: 19-33599323-G-T

NM_018025.2(GPATCH1):c.1286-1300G>T

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: rs13345828
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Computational Characterization of Osteoporosis Associated SNPs and Genes Identified by Genome-Wide Association Studies.

Plos One
Qin, Longjuan L; Liu, Yuyong Y; Wang, Ya Y; Wu, Guiju G; Chen, Jie J; Ye, Weiyuan W; Yang, Jiancai J; Huang, Qingyang Q
Publication Date: 2016

Variant appearance in text: rs13345828
PubMed Link: 26930606
Variant Present in the following documents:
  • Main text
  • pone.0150070.pdf
View BVdb publication page