HP c.875T>G ;(p.F292C)

Variant ID: 16-72094443-T-G

NM_005143.3(HP):c.875T>G;(p.F292C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lee, Vivian S VS; Halabi, Carmen M CM; Hoffman, Erin P EP; Carmichael, Nikkola N; Leshchiner, Ignaty I; Lian, Christine G CG; Bierhals, Andrew J AJ; Vuzman, Dana D; , ; Mecham, Robert P RP; Frank, Natasha Y NY; Stitziel, Nathan O NO
Publication Date: 2016-08-02

Variant appearance in text: HP: 875T>G
PubMed Link: 27432961
Variant Present in the following documents:
  • Main text
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