Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: HLA-DRA: I134I

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: HLA-DRA: I134=

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: HLA-DRA: I134I

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Cognitive Process of Psoriasis and Its Comorbidities: From Epidemiology to Genetics.

Frontiers In Genetics

Gao, Jing J; Shen, Xue X; Ko, Randy R; Huang, Cong C; Shen, Changbing C

Publication Date: 2021

Variant appearance in text: rs8084

PubMed Link: 34899832

Variant Present in the following documents:

• Main text
• fgene-12-735124.pdf

View BVdb publication page

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MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology

Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, Verônica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2021

Variant appearance in text: rs8084

PubMed Link: 34650566

Variant Present in the following documents:

• Table_3.xlsx, sheet 1
• Table_3.xlsx, sheet 3
• Table_3.xlsx, sheet 2
• Table_3.xlsx, sheet 4
• Table_3.xlsx, sheet 5

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: HLA-DRA: Ile134Ile; rs8084

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A splice acceptor variant in HLA-DRA affects the conformation and cellular localization of the class II DR alpha-chain.

Immunology

Didonna, Alessandro A; Damotte, Vincent V; Shams, Hengameh H; Matsunaga, Atsuko A; Caillier, Stacy J SJ; Dandekar, Ravi R; Misra, Maneesh K MK; Mofrad, Mohammad R K MRK; Oksenberg, Jorge R JR; Hollenbach, Jill A JA

Publication Date: 2021-02

Variant appearance in text: rs8084

PubMed Link: 32986852

Variant Present in the following documents:

• Main text

View BVdb publication page

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Erratum to "An Updated Review of the Molecular Mechanisms in Drug Hypersensitivity".

Journal Of Immunology Research

Chen, Chun-Bing CB; Abe, Riichiro R; Pan, Ren-You RY; Wang, Chuang-Wei CW; Hung, Shuen-Iu SI; Tsai, Yi-Giien YG; Chung, Wen-Hung WH

Publication Date: 2019

Variant appearance in text: rs8084

PubMed Link: 30838223

Variant Present in the following documents:

• Main text
• JIR2019-2489429.pdf

View BVdb publication page

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Extended methods for gene-environment-wide interaction scans in studies of admixed individuals with varying degrees of relationships.

Genetic Epidemiology

Chen, Yalei Y; Adrianto, Indra I; Ianuzzi, Michael C MC; Garman, Lori L; Montgomery, Courtney G CG; Rybicki, Benjamin A BA; Levin, Albert M AM; Li, Jia J

Publication Date: 2019-06

Variant appearance in text: rs8084

PubMed Link: 30793815

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of deleterious and regulatory genomic variations in known asthma loci.

Respiratory Research

Neville, Matthew D C MDC; Choi, Jihoon J; Lieberman, Jonathan J; Duan, Qing Ling QL

Publication Date: 2018-12-12

Variant appearance in text: rs8084

PubMed Link: 30541564

Variant Present in the following documents:

• Main text
• 12931_2018_Article_953.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs8084

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

View BVdb publication page

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Genome-wide association study identified new susceptible genetic variants in HLA class I region for hepatitis B virus-related hepatocellular carcinoma.

Scientific Reports

Sawai, Hiromi H; Nishida, Nao N; Khor, Seik-Soon SS; Honda, Masao M; Sugiyama, Masaya M; Baba, Natsumi N; Yamada, Kayoko K; Sawada, Norie N; Tsugane, Shoichiro S; Koike, Kazuhiko K; Kondo, Yuji Y; Yatsuhashi, Hiroshi H; Nagaoka, Shinya S; Taketomi, Akinobu A; Fukai, Moto M; Kurosaki, Masayuki M; Izumi, Namiki N; Kang, Jong-Hon JH; Murata, Kazumoto K; Hino, Keisuke K; Nishina, Sohji S; Matsumoto, Akihiro A; Tanaka, Eiji E; Sakamoto, Naoya N; Ogawa, Koji K; Yamamoto, Kazuhide K; Tamori, Akihiro A; Yokosuka, Osamu O; Kanda, Tatsuo T; Sakaida, Isao I; Itoh, Yoshito Y; Eguchi, Yuichiro Y; Oeda, Satoshi S; Mochida, Satoshi S; Yuen, Man-Fung MF; Seto, Wai-Kay WK; Poovorawan, Yong Y; Posuwan, Nawarat N; Mizokami, Masashi M; Tokunaga, Katsushi K

Publication Date: 2018-05-21

Variant appearance in text: rs8084

PubMed Link: 29784950

Variant Present in the following documents:

• Main text
• 41598_2018_Article_26217.pdf

View BVdb publication page

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An Updated Review of the Molecular Mechanisms in Drug Hypersensitivity.

Journal Of Immunology Research

Chen, Chun-Bing CB; Abe, Riichiro R; Pan, Ren-You RY; Wang, Chuang-Wei CW; Hung, Shuen-Iu SI; Tsai, Yi-Giien YG; Chung, Wen-Hung WH

Publication Date: 2018

Variant appearance in text: rs8084

PubMed Link: 29651444

Variant Present in the following documents:

• Main text
• JIR2018-6431694.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: HLA-DRA: I134I; rs8084

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Severe Delayed Drug Reactions: Role of Genetics and Viral Infections.

Immunology And Allergy Clinics Of North America

Pavlos, Rebecca R; White, Katie D KD; Wanjalla, Celestine C; Mallal, Simon A SA; Phillips, Elizabeth J EJ

Publication Date: 2017-11

Variant appearance in text: rs8084

PubMed Link: 28965641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: HLA-DRA: I134I; rs8084

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 1

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: HLA-DRA: I134I; rs8084

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs8084

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: HLA-DRA: I134I

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

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: HLA-DRA: I134I; rs8084

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: HLA-DRA: I134I

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3
• pone.0109576.s003.xls, sheet 3
• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

Nature Genetics

Kiryluk, Krzysztof K; Li, Yifu Y; Scolari, Francesco F; Sanna-Cherchi, Simone S; Choi, Murim M; Verbitsky, Miguel M; Fasel, David D; Lata, Sneh S; Prakash, Sindhuri S; Shapiro, Samantha S; Fischman, Clara C; Snyder, Holly J HJ; Appel, Gerald G; Izzi, Claudia C; Viola, Battista Fabio BF; Dallera, Nadia N; Del Vecchio, Lucia L; Barlassina, Cristina C; Salvi, Erika E; Bertinetto, Francesca Eleonora FE; Amoroso, Antonio A; Savoldi, Silvana S; Rocchietti, Marcella M; Amore, Alessandro A; Peruzzi, Licia L; Coppo, Rosanna R; Salvadori, Maurizio M; Ravani, Pietro P; Magistroni, Riccardo R; Ghiggeri, Gian Marco GM; Caridi, Gianluca G; Bodria, Monica M; Lugani, Francesca F; Allegri, Landino L; Delsante, Marco M; Maiorana, Mariarosa M; Magnano, Andrea A; Frasca, Giovanni G; Boer, Emanuela E; Boscutti, Giuliano G; Ponticelli, Claudio C; Mignani, Renzo R; Marcantoni, Carmelita C; Di Landro, Domenico D; Santoro, Domenico D; Pani, Antonello A; Polci, Rosaria R; Feriozzi, Sandro S; Chicca, Silvana S; Galliani, Marco M; Gigante, Maddalena M; Gesualdo, Loreto L; Zamboli, Pasquale P; Battaglia, Giovanni Giorgio GG; Garozzo, Maurizio M; Maixnerová, Dita D; Tesar, Vladimir V; Eitner, Frank F; Rauen, Thomas T; Floege, Jürgen J; Kovacs, Tibor T; Nagy, Judit J; Mucha, Krzysztof K; Pączek, Leszek L; Zaniew, Marcin M; Mizerska-Wasiak, Małgorzata M; Roszkowska-Blaim, Maria M; Pawlaczyk, Krzysztof K; Gale, Daniel D; Barratt, Jonathan J; Thibaudin, Lise L; Berthoux, Francois F; Canaud, Guillaume G; Boland, Anne A; Metzger, Marie M; Panzer, Ulf U; Suzuki, Hitoshi H; Goto, Shin S; Narita, Ichiei I; Caliskan, Yasar Y; Xie, Jingyuan J; Hou, Ping P; Chen, Nan N; Zhang, Hong H; Wyatt, Robert J RJ; Novak, Jan J; Julian, Bruce A BA; Feehally, John J; Stengel, Benedicte B; Cusi, Daniele D; Lifton, Richard P RP; Gharavi, Ali G AG

Publication Date: 2014-11

Variant appearance in text: rs8084

PubMed Link: 25305756

Variant Present in the following documents:

• NIHMS630801-supplement-1.pdf

View BVdb publication page

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Genome-wide genetic and transcriptomic investigation of variation in antibody response to dietary antigens.

Genetic Epidemiology

Rubicz, Rohina R; Yolken, Robert R; Alaedini, Armin A; Drigalenko, Eugene E; Charlesworth, Jac C JC; Carless, Melanie A MA; Severance, Emily G EG; Krivogorsky, Bogdana B; Dyer, Thomas D TD; Kent, Jack W JW; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Blangero, John J; Göring, Harald H H HH

Publication Date: 2014-07

Variant appearance in text: rs8084

PubMed Link: 24962563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: HLA-DRA: I134I; rs8084

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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Evaluation of SLE Susceptibility Genes in Malaysians.

Autoimmune Diseases

Molineros, Julio E JE; Chua, Kek Heng KH; Sun, Celi C; Lian, Lay Hoong LH; Motghare, Prasenjeet P; Kim-Howard, Xana X; Nath, Swapan K SK

Publication Date: 2014

Variant appearance in text: rs8084

PubMed Link: 24696779

Variant Present in the following documents:

• Main text
• AD2014-305436.pdf

View BVdb publication page

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Admixture fine-mapping in African Americans implicates XAF1 as a possible sarcoidosis risk gene.

Plos One

Levin, Albert M AM; Iannuzzi, Michael C MC; Montgomery, Courtney G CG; Trudeau, Sheri S; Datta, Indrani I; Adrianto, Indra I; Chitale, Dhananjay A DA; McKeigue, Paul P; Rybicki, Benjamin A BA

Publication Date: 2014

Variant appearance in text: rs8084

PubMed Link: 24663488

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: HLA-DRA: I134I; rs8084

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Diversity of extended HLA-DRB1 haplotypes in the Finnish population.

Plos One

Wennerström, Annika A; Vlachopoulou, Efthymia E; Lahtela, L Elisa LE; Paakkanen, Riitta R; Eronen, Katja T KT; Seppänen, Mikko M; Lokki, Marja-Liisa ML

Publication Date: 2013

Variant appearance in text: rs8084

PubMed Link: 24278156

Variant Present in the following documents:

• Main text
• pone.0079690.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: HLA-DRA: I134I; rs8084

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

View BVdb publication page

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A two-stage evaluation of genetic variation in immune and inflammation genes with risk of non-Hodgkin lymphoma identifies new susceptibility locus in 6p21.3 region.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Cerhan, James R JR; Fredericksen, Zachary S ZS; Novak, Anne J AJ; Ansell, Stephen M SM; Kay, Neil E NE; Liebow, Mark M; Dogan, Ahmet A; Cunningham, Julie M JM; Wang, Alice H AH; Witzig, Thomas E TE; Habermann, Thomas M TM; Asmann, Yan W YW; Slager, Susan L SL

Publication Date: 2012-10

Variant appearance in text: rs8084

PubMed Link: 22911334

Variant Present in the following documents:

• Main text

View BVdb publication page

---