Publications:

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Remediation of ABCG5-Linked Macrothrombocytopenia With Ezetimibe Therapy.

Frontiers In Genetics

Deng, Libin L; Xu, Jingsong J; Chen, Wei W; Guo, Shicheng S; Steiner, Robert D RD; Chen, Qi Q; Cheng, Zhujun Z; Xu, Yanmei Y; Yao, Bei B; Li, Xiaoyan X; Wang, Xiaozhong X; Deng, Keyu K; Schrodi, Steven J SJ; Zhang, Dake D; Xin, Hongbo H

Publication Date: 2021

Variant appearance in text: rs2278357

PubMed Link: 34880906

Variant Present in the following documents:

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs2278357

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs2278357

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research

Walther, Barbara B; Lett, Aaron M AM; Bordoni, Alessandra A; Tomás-Cobos, Lidia L; Nieto, Juan Antonio JA; Dupont, Didier D; Danesi, Francesca F; Shahar, Danit R DR; Echaniz, Ana A; Re, Roberta R; Fernandez, Aida Sainz AS; Deglaire, Amélie A; Gille, Doreen D; Schmid, Alexandra A; Vergères, Guy G

Publication Date: 2019-11

Variant appearance in text: rs2278357

PubMed Link: 31483113

Variant Present in the following documents:

• Main text
• MNFR-63-na.pdf

View BVdb publication page

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Genetic Variations Associated with Vitamin A Status and Vitamin A Bioavailability.

Nutrients

Borel, Patrick P; Desmarchelier, Charles C

Publication Date: 2017-03-08

Variant appearance in text: rs2278357

PubMed Link: 28282870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host-related factors explaining interindividual variability of carotenoid bioavailability and tissue concentrations in humans.

Molecular Nutrition & Food Research

Bohn, Torsten T; Desmarchelier, Charles C; Dragsted, Lars O LO; Nielsen, Charlotte S CS; Stahl, Wilhelm W; Rühl, Ralph R; Keijer, Jaap J; Borel, Patrick P

Publication Date: 2017-06

Variant appearance in text: rs2278357

PubMed Link: 28101967

Variant Present in the following documents:

• Main text
• MNFR-61-na.pdf

View BVdb publication page

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Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array.

European Journal Of Human Genetics : Ejhg

Rodriguez, Santiago S; Gaunt, Tom R TR; Guo, Yiran Y; Zheng, Jie J; Barnes, Michael R MR; Tang, Weihang W; Danish, Fazal F; Johnson, Andrew A; Castillo, Berta A BA; Li, Yun R YR; Hakonarson, Hakon H; Buxbaum, Sarah G SG; Palmer, Tom T; Tsai, Michael Y MY; Lange, Leslie A LA; Ebrahim, Shah S; Davey Smith, George G; Lawlor, Debbie A DA; Folsom, Aaron R AR; Hoogeveen, Ron R; Reiner, Alex A; Keating, Brendan B; Day, Ian N M IN

Publication Date: 2016-01

Variant appearance in text: rs2278357

PubMed Link: 25920552

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway-based analysis using genome-wide association data from a Korean non-small cell lung cancer study.

Plos One

Lee, Donghoon D; Lee, Geon Kook GK; Yoon, Kyong-Ah KA; Lee, Jin Soo JS

Publication Date: 2013

Variant appearance in text: rs2278357

PubMed Link: 23762359

Variant Present in the following documents:

• Main text
• pone.0065396.pdf

View BVdb publication page

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