TTC12 c.577-68C>G

Variant ID: 11-113209428-C-G

NM_017868.3(TTC12):c.577-68C>G

This variant was identified in 3 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: rs10891536
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs10891536
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure.

Jama Psychiatry
Nelson, Elliot C EC; Lynskey, Michael T MT; Heath, Andrew C AC; Wray, Naomi N; Agrawal, Arpana A; Shand, Fiona L FL; Henders, Anjali K AK; Wallace, Leanne L; Todorov, Alexandre A AA; Schrage, Andrew J AJ; Saccone, Nancy L NL; Madden, Pamela A F PA; Degenhardt, Louisa L; Martin, Nicholas G NG; Montgomery, Grant W GW
Publication Date: 2013-03

Variant appearance in text: rs10891536
PubMed Link: 23303482
Variant Present in the following documents:
  • Main text
View BVdb publication page