Publications:

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Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.

International Journal Of Molecular Sciences

Nazarenko, Maria S MS; Sleptcov, Aleksei A AA; Zarubin, Aleksei A AA; Salakhov, Ramil R RR; Shevchenko, Alexander I AI; Tmoyan, Narek A NA; Elisaphenko, Eugeny A EA; Zubkova, Ekaterina S ES; Zheltysheva, Nina V NV; Ezhov, Marat V MV; Kukharchuk, Valery V VV; Parfyonova, Yelena V YV; Zakian, Suren M SM; Zakharova, Irina S IS

Publication Date: 2023-02-24

Variant appearance in text: rs12983082

PubMed Link: 36901902

Variant Present in the following documents:

• Main text
• ijms-24-04471.pdf

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12983082

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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LDLR rs688 TT Genotype and T Allele Are Associated with Increased Susceptibility to Coronary Artery Disease-A Case-Control Study.

Journal Of Cardiovascular Development And Disease

Jha, Chandan K CK; Mir, Rashid R; Khullar, Naina N; Banu, Shaheena S; Chahal, S M S SMS

Publication Date: 2018-05-29

Variant appearance in text: rs12983082

PubMed Link: 29843469

Variant Present in the following documents:

• Main text
• jcdd-05-00031.pdf

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Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)

Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A

Publication Date: 2017-04-24

Variant appearance in text: rs12983082

PubMed Link: 28438747

Variant Present in the following documents:

• benm033277.ww1.pdf

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LDLR C1725T Gene Polymorphism Frequency in Type 2 Diabetes Mellitus Patients With Dyslipidemia.

Journal Of Clinical Medicine Research

Eroglu, Zuhal Z; Harman, Ece E; Vardarli, Egemen E; Kayikcioglu, Meral M; Vardarli, Asli Tetik AT

Publication Date: 2016-11

Variant appearance in text: rs12983082

PubMed Link: 27738480

Variant Present in the following documents:

• Main text
• jocmr-08-793.pdf

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Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.

Oncotarget

Bai, Feng F; Yuan, Yonggui Y; Shi, Yongmei Y; Zhang, Zhijun Z

Publication Date: 2016-03-29

Variant appearance in text: rs12983082

PubMed Link: 26985771

Variant Present in the following documents:

• Main text

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LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers.

Plos One

Ochoa, Eguzkine E; Iriondo, Mikel M; Manzano, Carmen C; Fullaondo, Asier A; Villar, Irama I; Ruiz-Irastorza, Guillermo G; Zubiaga, Ana M AM; Estonba, Andone A

Publication Date: 2016

Variant appearance in text: rs12983082

PubMed Link: 26820623

Variant Present in the following documents:

• Main text
• pone.0146990.pdf

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A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.

Human Molecular Genetics

Gao, Feng F; Ihn, Hansel E HE; Medina, Marisa W MW; Krauss, Ronald M RM

Publication Date: 2013-04-01

Variant appearance in text: rs12983082

PubMed Link: 23297366

Variant Present in the following documents:

• Main text

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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One

Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z

Publication Date: 2012

Variant appearance in text: rs12983082

PubMed Link: 22911757

Variant Present in the following documents:

• Main text
• pone.0041198.pdf

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