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: rs2288066

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 21
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 19

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A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

Molecular Vision

Zhang, Li-Yun LY; Gong, Bo B; Tong, Jian-Ping JP; Fan, Dorothy Shu-Ping DS; Chiang, Sylvia Wai-Yee SW; Lou, Dinghua D; Lam, Dennis Shun-Chiu DS; Yam, Gary Hin-Fai GH; Pang, Chi-Pui CP

Publication Date: 2009-08-06

Variant appearance in text: rs2288066

PubMed Link: 19668596

Variant Present in the following documents:

• Main text
• mv-v15-1521.pdf

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An alphaA-crystallin gene mutation, Arg12Cys, causing inherited cataract-microcornea exhibits an altered heat-shock response.

Molecular Vision

Zhang, Li-Yun LY; Yam, Gary Hin-Fai GH; Tam, Pancy Oi-Sin PO; Lai, Ricky Yiu-Kwong RY; Lam, Dennis Shun-Chiu DS; Pang, Chi-Pui CP; Fan, Dorothy Shu-Ping DS

Publication Date: 2009-06-04

Variant appearance in text: rs2288066

PubMed Link: 19503744

Variant Present in the following documents:

• Main text

View BVdb publication page