Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: MYOC: 1188G>A; E396E

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

View BVdb publication page

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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: E396E; rs61730975

PubMed Link: 32898326

Variant Present in the following documents:

• CTM2-10-e152-s001.pdf

View BVdb publication page

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Structural basis for misfolding in myocilin-associated glaucoma.

Human Molecular Genetics

Donegan, Rebecca K RK; Hill, Shannon E SE; Freeman, Dana M DM; Nguyen, Elaine E; Orwig, Susan D SD; Turnage, Katherine C KC; Lieberman, Raquel L RL

Publication Date: 2015-04-15

Variant appearance in text: rs61730975

PubMed Link: 25524706

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Glu396Glu; rs61730975

PubMed Link: 22933836

Variant Present in the following documents:

• Main text
• mv-v18-2241.pdf

View BVdb publication page

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The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Biochemistry

Burns, J Nicole JN; Turnage, Katherine C KC; Walker, Chandler A CA; Lieberman, Raquel L RL

Publication Date: 2011-07-05

Variant appearance in text: rs61730975

PubMed Link: 21612213

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1188G>A; Glu396Glu; rs61730975

PubMed Link: 21552496

Variant Present in the following documents:

• Main text
• mv-v17-1064.pdf

View BVdb publication page

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