Publications:

Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs12082573

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 3
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

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Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine

Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A

Publication Date: 2020-08

Variant appearance in text: MYOC: P13P; rs12082573

PubMed Link: 32898326

Variant Present in the following documents:

• CTM2-10-e152-s001.pdf

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Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision

Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA

Publication Date: 2012

Variant appearance in text: MYOC: Pro13Pro; rs12082573

PubMed Link: 22933836

Variant Present in the following documents:

• Main text
• mv-v18-2241.pdf

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Myocilin mutations in black South Africans with POAG.

Molecular Vision

Whigham, Benjamin T BT; Williams, Susan E I SE; Liu, Yutao Y; Rautenbach, Robyn M RM; Carmichael, Trevor R TR; Wheeler, Joshua J; Ziskind, Ari A; Qin, Xuejun X; Schmidt, Silke S; Ramsay, Michele M; Hauser, Michael A MA; Allingham, R Rand RR

Publication Date: 2011-04-27

Variant appearance in text: MYOC: Pro13Pro; rs12082573

PubMed Link: 21552496

Variant Present in the following documents:

• Main text
• mv-v17-1064.pdf

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Myocilin polymorphisms and high myopia in subjects of European origin.

Molecular Vision

Zayats, Tetyana T; Yanovitch, Tammy T; Creer, Rosalind C RC; McMahon, George G; Li, Yi-Ju YJ; Young, Terri L TL; Guggenheim, Jeremy A JA

Publication Date: 2009

Variant appearance in text: rs12082573

PubMed Link: 19180258

Variant Present in the following documents:

• Main text
• mv-v15-213.pdf

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