TEK c.1477C>T ;(p.Q493*)

Variant ID: 9-27190676-C-T

NM_000459.3(TEK):c.1477C>T;(p.Q493*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

The Journal Of Clinical Investigation
Thomson, Benjamin R BR; Souma, Tomokazu T; Tompson, Stuart W SW; Onay, Tuncer T; Kizhatil, Krishnakumar K; Siggs, Owen M OM; Feng, Liang L; Whisenhunt, Kristina N KN; Yanovitch, Tammy L TL; Kalaydjieva, Luba L; Azmanov, Dimitar N DN; Finzi, Simone S; Tanna, Christine E CE; Hewitt, Alex W AW; Mackey, David A DA; Bradfield, Yasmin S YS; Souzeau, Emmanuelle E; Javadiyan, Shari S; Wiggs, Janey L JL; Pasutto, Francesca F; Liu, Xiaorong X; John, Simon Wm SW; Craig, Jamie E JE; Jin, Jing J; Young, Terri L TL; Quaggin, Susan E SE
Publication Date: 2017-12-01

Variant appearance in text: TEK: 1477C>T
PubMed Link: 29106382
Variant Present in the following documents:
  • Main text
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