Publications:

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis.

Cell Death & Disease

Yang, Yeming Y; Li, Xiao X; Wang, Jieping J; Tan, Junkai J; Fitzmaurice, Bernie B; Nishina, Patsy M PM; Sun, Kuanxiang K; Tian, Wanli W; Liu, Wenjing W; Liu, Xuyang X; Chang, Bo B; Zhu, Xianjun X

Publication Date: 2021-10-29

Variant appearance in text: Dnahc11: P152R

PubMed Link: 34716303

Variant Present in the following documents:

• 41419_2021_4331_MOESM2_ESM.xlsx, sheet 1

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Joint mouse-human phenome-wide association to test gene function and disease risk.

Nature Communications

Wang, Xusheng X; Pandey, Ashutosh K AK; Mulligan, Megan K MK; Williams, Evan G EG; Mozhui, Khyobeni K; Li, Zhengsheng Z; Jovaisaite, Virginija V; Quarles, L Darryl LD; Xiao, Zhousheng Z; Huang, Jinsong J; Capra, John A JA; Chen, Zugen Z; Taylor, William L WL; Bastarache, Lisa L; Niu, Xinnan X; Pollard, Katherine S KS; Ciobanu, Daniel C DC; Reznik, Alexander O AO; Tishkov, Artem V AV; Zhulin, Igor B IB; Peng, Junmin J; Nelson, Stanley F SF; Denny, Joshua C JC; Auwerx, Johan J; Lu, Lu L; Williams, Robert W RW

Publication Date: 2016-02-02

Variant appearance in text: Dnahc11: P152R

PubMed Link: 26833085

Variant Present in the following documents:

• ncomms10464-s5.xlsx, sheet 1

View BVdb publication page