Publications:

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Exome variants associated with asthma and allergy.

Scientific Reports

Wjst, Matthias M

Publication Date: 2022-12-05

Variant appearance in text: OR12D3: 290C>T

PubMed Link: 36470944

Variant Present in the following documents:

• 41598_2022_24960_MOESM1_ESM.pdf

View BVdb publication page

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Bidirectional genetic overlap between bipolar disorder and intelligence.

Bmc Medicine

Shang, Meng-Yuan MY; Wu, Yong Y; Zhang, Chu-Yi CY; Qi, Hao-Xiang HX; Zhang, Qing Q; Huo, Jin-Hua JH; Wang, Lu L; Wang, Chuang C; Li, Ming M

Publication Date: 2022-11-30

Variant appearance in text: rs3749971

PubMed Link: 36447210

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: OR12D3: 290C>T; T97I; rs3749971

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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The mutational landscape of human olfactory G protein-coupled receptors.

Bmc Biology

Jimenez, Ramón Cierco RC; Casajuana-Martin, Nil N; García-Recio, Adrián A; Alcántara, Lidia L; Pardo, Leonardo L; Campillo, Mercedes M; Gonzalez, Angel A

Publication Date: 2021-02-05

Variant appearance in text: OR12D3: 290C>T; Thr97Ile; rs3749971

PubMed Link: 33546694

Variant Present in the following documents:

• 12915_2021_962_MOESM4_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: OR12D3: T97I; rs3749971

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: OR12D3: 290C>T; Thr97Ile

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: OR12D3: T97I; rs3749971

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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Genetic variants affecting equivalent protein family positions reflect human diversity.

Scientific Reports

Raimondi, Francesco F; Betts, Matthew J MJ; Lu, Qianhao Q; Inoue, Asuka A; Gutkind, J Silvio JS; Russell, Robert B RB

Publication Date: 2017-10-06

Variant appearance in text: OR12D3: T97I

PubMed Link: 28986545

Variant Present in the following documents:

• 41598_2017_12971_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

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Association of variations in HLA class II and other loci with susceptibility to EGFR-mutated lung adenocarcinoma.

Nature Communications

Shiraishi, Kouya K; Okada, Yukinori Y; Takahashi, Atsushi A; Kamatani, Yoichiro Y; Momozawa, Yukihide Y; Ashikawa, Kyota K; Kunitoh, Hideo H; Matsumoto, Shingo S; Takano, Atsushi A; Shimizu, Kimihiro K; Goto, Akiteru A; Tsuta, Koji K; Watanabe, Shun-Ichi SI; Ohe, Yuichiro Y; Watanabe, Yukio Y; Goto, Yasushi Y; Nokihara, Hiroshi H; Furuta, Koh K; Yoshida, Akihiko A; Goto, Koichi K; Hishida, Tomoyuki T; Tsuboi, Masahiro M; Tsuchihara, Katsuya K; Miyagi, Yohei Y; Nakayama, Haruhiko H; Yokose, Tomoyuki T; Tanaka, Kazumi K; Nagashima, Toshiteru T; Ohtaki, Yoichi Y; Maeda, Daichi D; Imai, Kazuhiro K; Minamiya, Yoshihiro Y; Sakamoto, Hiromi H; Saito, Akira A; Shimada, Yoko Y; Sunami, Kuniko K; Saito, Motonobu M; Inazawa, Johji J; Nakamura, Yusuke Y; Yoshida, Teruhiko T; Yokota, Jun J; Matsuda, Fumihiko F; Matsuo, Keitaro K; Daigo, Yataro Y; Kubo, Michiaki M; Kohno, Takashi T

Publication Date: 2016-08-09

Variant appearance in text: rs3749971

PubMed Link: 27501781

Variant Present in the following documents:

• ncomms12451-s1.pdf

View BVdb publication page

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Identification of Genes Whose Expression Profile Is Associated with Non-Progression towards AIDS Using eQTLs.

Plos One

Spadoni, Jean-Louis JL; Rucart, Pierre P; Le Clerc, Sigrid S; van Manen, Daniëlle D; Coulonges, Cédric C; Ulveling, Damien D; Laville, Vincent V; Labib, Taoufik T; Taing, Lieng L; Delaneau, Olivier O; Montes, Matthieu M; Schuitemaker, Hanneke H; Noirel, Josselin J; Zagury, Jean-François JF

Publication Date: 2015

Variant appearance in text: rs3749971

PubMed Link: 26367535

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: OR12D3: T97I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget

Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A

Publication Date: 2015-07-10

Variant appearance in text: rs3749971

PubMed Link: 26046463

Variant Present in the following documents:

• oncotarget-06-17543-s002.xls, sheet 1
• oncotarget-06-17543-s001.pdf

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: OR12D3: T97I; rs3749971

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 5
• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 7

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: OR12D3: T97I; rs3749971

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic basis of olfactory cognition: extremely high level of DNA sequence polymorphism in promoter regions of the human olfactory receptor genes revealed using the 1000 Genomes Project dataset.

Frontiers In Psychology

Ignatieva, Elena V EV; Levitsky, Victor G VG; Yudin, Nikolay S NS; Moshkin, Mikhail P MP; Kolchanov, Nikolay A NA

Publication Date: 2014

Variant appearance in text: rs3749971

PubMed Link: 24715883

Variant Present in the following documents:

• Main text
• fpsyg-05-00247.pdf

View BVdb publication page

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Association of the HLA locus and TNF with type I autoimmune hepatitis susceptibility in New Zealand Caucasians.

Springerplus

Ngu, Jing H JH; Wallace, Mary C MC; Merriman, Tony R TR; Gearry, Richard B RB; Stedman, Catherine Am CA; Roberts, Rebecca L RL

Publication Date: 2013

Variant appearance in text: rs3749971

PubMed Link: 23961418

Variant Present in the following documents:

• Main text
• 40064_2013_Article_419.pdf

View BVdb publication page

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Multistage genomewide association study identifies a locus at 1q41 associated with rate of HIV-1 disease progression to clinical AIDS.

The Journal Of Infectious Diseases

Herbeck, Joshua T JT; Gottlieb, Geoffrey S GS; Winkler, Cheryl A CA; Nelson, George W GW; An, Ping P; Maust, Brandon S BS; Wong, Kim G KG; Troyer, Jennifer L JL; Goedert, James J JJ; Kessing, Bailey D BD; Detels, Roger R; Wolinsky, Steven M SM; Martinson, Jeremy J; Buchbinder, Susan S; Kirk, Gregory D GD; Jacobson, Lisa P LP; Margolick, Joseph B JB; Kaslow, Richard A RA; O'Brien, Stephen J SJ; Mullins, James I JI

Publication Date: 2010-02-15

Variant appearance in text: rs3749971

PubMed Link: 20064070

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of smoking behavior with an odorant receptor allele telomeric to the human major histocompatibility complex.

Genetic Testing

Santos, Pablo Sandro Carvalho PS; Füst, George G; Prohászka, Zoltán Z; Volz, Armin A; Horton, Roger R; Miretti, Marcos M; Yu, Chack-Yung CY; Beck, Stephan S; Uchanska-Ziegler, Barbara B; Ziegler, Andreas A

Publication Date: 2008-12

Variant appearance in text: OR12D3: Thr97Ile; rs3749971

PubMed Link: 18939942

Variant Present in the following documents:

• Main text

View BVdb publication page

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