TEK c.3103G>C ;(p.G1035R)

Variant ID: 9-27218815-G-C

NM_000459.3(TEK):c.3103G>C;(p.G1035R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.

Investigative Ophthalmology & Visual Science
Young, Terri L TL; Whisenhunt, Kristina N KN; Jin, Jing J; LaMartina, Sarah M SM; Martin, Sean M SM; Souma, Tomokazu T; Limviphuvadh, Vachiranee V; Suri, Fatemeh F; Souzeau, Emmanuelle E; Zhang, Xue X; Dan, Yongwook Y; Anagnos, Evie E; Carmona, Susana S; Jody, Nicole M NM; Stangel, Nickie N; Higuchi, Emily C EC; Huang, Samuel J SJ; Siggs, Owen M OM; Simões, Maria José MJ; Lawson, Brendan M BM; Martin, Jacob S JS; Elahi, Elahe E; Narooie-Nejad, Mehrnaz M; Motlagh, Behzad Fallahi BF; Quaggin, Susan E SE; Potter, Heather D HD; Silva, Eduardo D ED; Craig, Jamie E JE; Egas, Conceição C; Maroofian, Reza R; Maurer-Stroh, Sebastian S; Bradfield, Yasmin S YS; Tompson, Stuart W SW
Publication Date: 2020-10-01

Variant appearance in text: TEK: 3103G>C
PubMed Link: 33027505
Variant Present in the following documents:
  • Main text
  • iovs-61-12-6.pdf
  • iovs-61-12-6_s002.pdf
View BVdb publication page