Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs4149087

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs4149087

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Pharmacogenetics of tenofovir and emtricitabine penetration into cerebrospinal fluid.

Southern African Journal Of Hiv Medicine

Decloedt, Eric H EH; Sinxadi, Phumla Z PZ; Wiesner, Lubbe L; Joska, John A JA; Haas, David W DW; Maartens, Gary G

Publication Date: 2021

Variant appearance in text: rs4149087

PubMed Link: 34007475

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs4149087

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs4149087

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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Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C.

Plos One

Kato, Keizo K; Shimada, Noritomo N; Atsukawa, Masanori M; Abe, Hiroshi H; Itokawa, Norio N; Matsumoto, Yoshihiro Y; Agata, Rie R; Tsubota, Akihito A

Publication Date: 2019

Variant appearance in text: rs4149087

PubMed Link: 31291311

Variant Present in the following documents:

• Main text
• pone.0219022.pdf

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: rs4149087

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Hepatology (Baltimore, Md.)

Kagawa, Tatehiro T; Adachi, Yukihiko Y; Hashimoto, Naoaki N; Mitsui, Hiroshi H; Ohashi, Tomohiko T; Yoneda, Masashi M; Hasegawa, Izumi I; Hirose, Shunji S; Tsuruya, Kota K; Anzai, Kazuya K; Mine, Tetsuya T

Publication Date: 2017-03

Variant appearance in text: rs4149087

PubMed Link: 27863442

Variant Present in the following documents:

• Main text
• HEP-65-1065.pdf

View BVdb publication page

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Frequencies of single-nucleotide polymorphisms and haplotypes of the SLCO1B1 gene in selected populations of the western balkans.

Balkan Journal Of Medical Genetics : Bjmg

Grapci, A Daka AD; Dimovski, A J AJ; Kapedanovska, A A; Vavlukis, M M; Eftimov, A A; Geshkovska, N Matevska NM; Labachevski, N N; Jakjovski, K K; Gorani, D D; Kedev, S S; Mladenovska, K K

Publication Date: 2015-06

Variant appearance in text: rs4149087

PubMed Link: 26929901

Variant Present in the following documents:

• Main text
• bjmg-18-01-05.pdf

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs4149087

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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