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: MUC16: S6991F

PubMed Link: 27432961

Variant Present in the following documents:

• Main text

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Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Bmc Cancer

Wen, Hongxiu H; Kim, Yeong C YC; Snyder, Carrie C; Xiao, Fengxia F; Fleissner, Elizabeth A EA; Becirovic, Dina D; Luo, Jiangtao J; Downs, Bradley B; Sherman, Simon S; Cowan, Kenneth H KH; Lynch, Henry T HT; Wang, San Ming SM

Publication Date: 2014-06-26

Variant appearance in text: MUC16: S6991F

PubMed Link: 24969172

Variant Present in the following documents:

• 1471-2407-14-470-S2.xlsx, sheet 1

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