Publications:

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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: rs6413505

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

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LDLR: 1358+32C>T

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs6413505

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene.

F1000Research

Nimir, Mohammed M; Abdelrahim, Mohanad M; Abdelrahim, Mohamed M; Abdalla, Mahil M; Ahmed, Wala Eldin WE; Abdullah, Muhanned M; Hamid, Muzamil Mahdi Abdel MMA

Publication Date: 2017

Variant appearance in text: rs6413505

PubMed Link: 29511529

Variant Present in the following documents:

• Main text
• f1000research-6-13959.pdf

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1358+32C>T

PubMed Link: 26608663

Variant Present in the following documents:

View BVdb publication page

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J

Publication Date: 2015-09-28

Variant appearance in text: LDLR: 1358+32C>T; rs6413505

PubMed Link: 26415676

Variant Present in the following documents:

View BVdb publication page

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