Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ESR1: 1096+16G>A; rs9397459

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: ESR1: 1096+16G>A

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

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Sodium sensitivity of blood pressure in Chinese populations.

Journal Of Human Hypertension

Liu, Yang Y; Shi, Mengyao M; Dolan, Jacquelyn J; He, Jiang J

Publication Date: 2020-02

Variant appearance in text: rs9397459

PubMed Link: 30631129

Variant Present in the following documents:

• Main text

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The etiological effect of a new low-frequency ESR1 variant on Mild Cognitive Impairment and Alzheimer's Disease: a population-based study.

Aging

Li, Xiaoling X; Zhu, Xiaoquan X; Zhang, Wandong W; Yang, Fan F; Hui, Juan J; Tan, Jiping J; Xie, Haiqun H; Peng, Dantao D; Ma, Lihua L; Cui, Lianqi L; Zhang, Shouzi S; Lv, Zeping Z; Sun, Liang L; Yuan, Huiping H; Zhou, Qi Q; Wang, Luning L; Qi, Shige S; Wang, Zhihui Z; Hu, Caiyou C; Yang, Ze Z

Publication Date: 2018-09-16

Variant appearance in text: rs9397459

PubMed Link: 30222591

Variant Present in the following documents:

• Main text
• aging-10-101548.pdf

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Investigation of variants in estrogen receptor genes and perinatal depression.

Neuropsychiatric Disease And Treatment

Tan, Ene-Choo EC; Lim, Hwee-Woon HW; Chua, Tze-Ern TE; Tan, Hui-San HS; Lee, Theresa My TM; Chen, Helen Y HY

Publication Date: 2018

Variant appearance in text: rs9397459

PubMed Link: 29636617

Variant Present in the following documents:

• Main text
• ndt-14-919.pdf

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The Association of Estrogen Receptor-β Gene Variation With Salt-Sensitive Blood Pressure.

The Journal Of Clinical Endocrinology And Metabolism

Manosroi, Worapaka W; Tan, Jia Wei JW; Rariy, Chevon M CM; Sun, Bei B; Goodarzi, Mark O MO; Saxena, Aditi R AR; Williams, Jonathan S JS; Pojoga, Luminita H LH; Lasky-Su, Jessica J; Cui, Jinrui J; Guo, Xiuqing X; Taylor, Kent D KD; Chen, Yii-Der I YI; Xiang, Anny H AH; Hsueh, Willa A WA; Raffel, Leslie J LJ; Buchanan, Thomas A TA; Rotter, Jerome I JI; Williams, Gordon H GH; Seely, Ellen W EW

Publication Date: 2017-11-01

Variant appearance in text: rs9397459

PubMed Link: 28938457

Variant Present in the following documents:

• Main text

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Analysis of sex hormone genes reveals gender differences in the genetic etiology of blood pressure salt sensitivity: the GenSalt study.

American Journal Of Hypertension

Kelly, Tanika N TN; Rebholz, Casey M CM; Gu, Dongfeng D; Hixson, James E JE; Rice, Treva K TK; Cao, Jie J; Chen, Jichun J; Li, Jianxin J; Lu, Fanghong F; Ma, Jixiang J; Mu, Jianjun J; Whelton, Paul K PK; He, Jiang J

Publication Date: 2013-02

Variant appearance in text: rs9397459

PubMed Link: 23382403

Variant Present in the following documents:

• Main text

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Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease.

Human Genetics

Keene, Keith L KL; Mychaleckyj, Josyf C JC; Leak, Tennille S TS; Smith, Shelly G SG; Perlegas, Peter S PS; Divers, Jasmin J; Langefeld, Carl D CD; Freedman, Barry I BI; Bowden, Donald W DW; Sale, Michèle M MM

Publication Date: 2008-09

Variant appearance in text: rs9397459

PubMed Link: 18654799

Variant Present in the following documents:

• Main text

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Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population.

Human Genetics

Keene, Keith L KL; Mychaleckyj, Josyf C JC; Smith, Shelly G SG; Leak, Tennille S TS; Perlegas, Peter S PS; Langefeld, Carl D CD; Herrington, David M DM; Freedman, Barry I BI; Rich, Stephen S SS; Bowden, Donald W DW; Sale, Michèle M MM

Publication Date: 2008-05

Variant appearance in text: rs9397459

PubMed Link: 18305958

Variant Present in the following documents:

• Main text

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