Publications:

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The effect of ACE2 receptor, IFN-γ, and TNF-α polymorphisms on the severity and prognosis of the disease in SARS-CoV-2 infection.

Journal Of Investigative Medicine : The Official Publication Of The American Federation For Clinical Research

Esen, Sayın Gülensoy SG; Basak, Celtikci C; Leyla, Özer Ö; Aslıhan, Alhan A; Evrim Eylem, Akpınar A

Publication Date: 2023-03-06

Variant appearance in text: ACE: 582C>T; Asn194Asn; rs4298

PubMed Link: 36876951

Variant Present in the following documents:

• Main text
• 10.1177_10815589231158379.pdf

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: ACE: 582C>T; Asn194=; rs4298

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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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: ACE: N194N; rs4298

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: ACE: 582C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs4298

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

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: rs4298

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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High-throughput allele-specific expression across 250 environmental conditions.

Genome Research

Moyerbrailean, Gregory A GA; Richards, Allison L AL; Kurtz, Daniel D; Kalita, Cynthia A CA; Davis, Gordon O GO; Harvey, Chris T CT; Alazizi, Adnan A; Watza, Donovan D; Sorokin, Yoram Y; Hauff, Nancy N; Zhou, Xiang X; Wen, Xiaoquan X; Pique-Regi, Roger R; Luca, Francesca F

Publication Date: 2016-12

Variant appearance in text: rs4298

PubMed Link: 27934696

Variant Present in the following documents:

• supp_gr.209759.116_Supplemental_Materials.pdf

View BVdb publication page

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EDN1 Gene Variant is Associated with Neonatal Persistent Pulmonary Hypertension.

Scientific Reports

Mei, Mei M; Cheng, Guoqiang G; Sun, Bijun B; Yang, Lin L; Wang, Huijun H; Sun, Jinqiao J; Zhou, Wenhao W

Publication Date: 2016-07-18

Variant appearance in text: rs4298

PubMed Link: 27425626

Variant Present in the following documents:

• Main text
• srep29877.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: ACE: N194N; rs4298

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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The genetic basis of quality of life in healthy Swedish women: a candidate gene approach.

Plos One

Schoormans, Dounya D; Li, Jingmei J; Darabi, Hatef H; Brandberg, Yvonne Y; Sprangers, Mirjam A G MA; Eriksson, Mikael M; Zwinderman, Koos H KH; Hall, Per P

Publication Date: 2015

Variant appearance in text: rs4298

PubMed Link: 25675377

Variant Present in the following documents:

• Main text
• pone.0118292.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ACE: N194N; rs4298

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic variant of AMD1 is associated with obesity in urban Indian children.

Plos One

Tabassum, Rubina R; Jaiswal, Alok A; Chauhan, Ganesh G; Dwivedi, Om Prakash OP; Ghosh, Saurabh S; Marwaha, Raman K RK; Tandon, Nikhil N; Bharadwaj, Dwaipayan D

Publication Date: 2012

Variant appearance in text: ACE: N194N; rs4298

PubMed Link: 22496743

Variant Present in the following documents:

View BVdb publication page

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