Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: GC: 334T>C

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria

Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE

Publication Date: 2023-01

Variant appearance in text: GC: C112R

PubMed Link: 36918009

Variant Present in the following documents:

• Main text
• 10-1055-s-0042-1758445.pdf

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: GC: 334T>C

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Host genetics impact on SARS-CoV-2 vaccine-induced immunoglobulin levels and dynamics: The role of TP53, ABO, APOE, ACE2, HLA-A, and CRP genes.

Frontiers In Genetics

Gemmati, Donato D; Longo, Giovanna G; Gallo, Ines I; Silva, Juliana Araujo JA; Secchiero, Paola P; Zauli, Giorgio G; Hanau, Stefania S; Passaro, Angelina A; Pellegatti, Patrizia P; Pizzicotti, Stefano S; Serino, Maria Luisa ML; Singh, Ajay Vikram AV; Tisato, Veronica V

Publication Date: 2022

Variant appearance in text: GC: C112R

PubMed Link: 36531241

Variant Present in the following documents:

• Main text
• fgene-13-1028081.pdf

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Neuroinflammation represents a common theme amongst genetic and environmental risk factors for Alzheimer and Parkinson diseases.

Journal Of Neuroinflammation

Boyd, Rachel J RJ; Avramopoulos, Dimitri D; Jantzie, Lauren L LL; McCallion, Andrew S AS

Publication Date: 2022-09-08

Variant appearance in text: GC: C112R

PubMed Link: 36076238

Variant Present in the following documents:

• 12974_2022_Article_2584.pdf

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VEGF-A-related genetic variants protect against Alzheimer's disease.

Aging

Petrelis, Alexandros M AM; Stathopoulou, Maria G MG; Kafyra, Maria M; Murray, Helena H; Masson, Christine C; Lamont, John J; Fitzgerald, Peter P; Dedoussis, George G; Yen, Frances T FT; Visvikis-Siest, Sophie S

Publication Date: 2022-03-28

Variant appearance in text: GC: Cys112Arg

PubMed Link: 35347084

Variant Present in the following documents:

• Main text

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Analysis of plasma proteins using 2D gels and novel fluorescent probes: in search of blood based biomarkers for Alzheimer's disease.

Proteome Science

Laffoon, Scott B SB; Doecke, James D JD; Roberts, Anne M AM; Vance, Jennifer A JA; Reeves, Benjamin D BD; Pertile, Kelly K KK; Rumble, Rebecca L RL; Fowler, Chris J CJ; Trounson, Brett B; Ames, David D; Martins, Ralph R; Bush, Ashley I AI; Masters, Colin L CL; Grieco, Paul A PA; Dratz, Edward A EA; Roberts, Blaine R BR

Publication Date: 2022-01-26

Variant appearance in text: VDBP: C112R

PubMed Link: 35081972

Variant Present in the following documents:

• Main text
• 12953_2021_Article_185.pdf

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Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities.

Frontiers In Endocrinology

Du, Xiaomi X; DeForest, Natalie N; Majithia, Amit R AR

Publication Date: 2021

Variant appearance in text: GC: C112R

PubMed Link: 34950105

Variant Present in the following documents:

• fendo-12-777075.pdf

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: GC: 334T>C

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: GC: 334T>C

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Blood-brain barrier transcytosis genes, risk of dementia and stroke: a prospective cohort study of 74,754 individuals.

European Journal Of Epidemiology

Juul Rasmussen, Ida I; Tybjærg-Hansen, Anne A; Rasmussen, Katrine Laura KL; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2019-06

Variant appearance in text: GC: Cys112Arg

PubMed Link: 30830563

Variant Present in the following documents:

• 10654_2019_Article_498.pdf

View BVdb publication page

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Human gastric cancer modelling using organoids.

Gut

Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE

Publication Date: 2019-02

Variant appearance in text: GC: Cys112Arg

PubMed Link: 29703791

Variant Present in the following documents:

• gutjnl-2017-314549supp010.xlsx, sheet 3

View BVdb publication page

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Genetic Risk Factors in Cerebrovascular Disorders and Cognitive Deterioration.

Current Genomics

Carril, Juan C JC; Cacabelos, Ramón R

Publication Date: 2017-10

Variant appearance in text: GC: Cys112Arg

PubMed Link: 29081697

Variant Present in the following documents:

• Main text

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: GC: 334T>C

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

View BVdb publication page

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Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics

Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M

Publication Date: 2017-02-23

Variant appearance in text: GC: 334T>C

PubMed Link: 28231761

Variant Present in the following documents:

• 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Lack of replication of associations between multiple genetic polymorphisms and endurance athlete status in Japanese population.

Physiological Reports

Yvert, Thomas T; Miyamoto-Mikami, Eri E; Murakami, Haruka H; Miyachi, Motohiko M; Kawahara, Takashi T; Fuku, Noriyuki N

Publication Date: 2016-10

Variant appearance in text: GC: Cys112Arg

PubMed Link: 27798356

Variant Present in the following documents:

• Main text
• PHY2-4-e13003.pdf

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The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.

Bmc Cardiovascular Disorders

Pleva, L L; Kovarova, P P; Faldynova, L L; Plevova, P P; Hilscherova, S S; Zapletalova, J J; Kusnierova, P P; Kukla, P P

Publication Date: 2015-10-24

Variant appearance in text: GC: C112R

PubMed Link: 26497592

Variant Present in the following documents:

• Main text
• 12872_2015_Article_128.pdf

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Polymorphisms of genes involved in lipid metabolism and risk of chronic kidney disease in Japanese - cross-sectional data from the J-MICC study.

Lipids In Health And Disease

Hishida, Asahi A; Wakai, Kenji K; Naito, Mariko M; Suma, Shino S; Sasakabe, Tae T; Hamajima, Nobuyuki N; Hosono, Satoyo S; Horita, Mikako M; Turin, Tanvir Chowdhury TC; Suzuki, Sadao S; Kairupan, Tara Sefanya TS; Mikami, Haruo H; Ohnaka, Keizo K; Watanabe, Isao I; Uemura, Hirokazu H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2014-10-14

Variant appearance in text: GC: Cys112Arg

PubMed Link: 25311932

Variant Present in the following documents:

• 12944_2014_Article_1143.pdf

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Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.

Plos One

Bérard, Annie M AM; Bedel, Aurélie A; Le Trequesser, Rémi R; Freyburger, Geneviève G; Nurden, Alan A; Colomer, Sylvie S; Guérin, Viviane V; Vergnes, Marie-Christine MC; Becker, François F; Camelot, Gabriel G; Bressolette, Luc L; Lacroix, Philippe P; Cambou, Jean-Pierre JP; Bura-Rivière, Alessandra A; Emmerich, Joseph J; Darmon, Michel M; Deletraz, Anne-Marie AM; Mesli, Samir S; Colombies, Brigitte B; Vanbrugghe, Virginie V; Conri, Claude C; Constans, Joël J

Publication Date: 2013

Variant appearance in text: GC: C112R

PubMed Link: 23533563

Variant Present in the following documents:

• Main text

View BVdb publication page

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Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study.

Journal Of Epidemiology

Wakai, Kenji K; Hamajima, Nobuyuki N; Okada, Rieko R; Naito, Mariko M; Morita, Emi E; Hishida, Asahi A; Kawai, Sayo S; Nishio, Kazuko K; Yin, Guang G; Asai, Yatami Y; Matsuo, Keitaro K; Hosono, Satoyo S; Ito, Hidemi H; Watanabe, Miki M; Kawase, Takakazu T; Suzuki, Takeshi T; Tajima, Kazuo K; Tanaka, Keitaro K; Higaki, Yasuki Y; Hara, Megumi M; Imaizumi, Takeshi T; Taguchi, Naoto N; Nakamura, Kazuyo K; Nanri, Hinako H; Sakamoto, Tatsuhiko T; Horita, Mikako M; Shinchi, Koichi K; Kita, Yoshikuni Y; Turin, Tanvir Chowdhury TC; Rumana, Nahid N; Matsui, Kenji K; Miura, Katsuyuki K; Ueshima, Hirotsugu H; Takashima, Naoyuki N; Nakamura, Yasuyuki Y; Suzuki, Sadao S; Ando, Ryosuke R; Hosono, Akihiro A; Imaeda, Nahomi N; Shibata, Kiyoshi K; Goto, Chiho C; Hattori, Nami N; Fukatsu, Mitsuru M; Yamada, Tamaki T; Tokudome, Shinkan S; Takezaki, Toshiro T; Niimura, Hideshi H; Hirasada, Kazuyo K; Nakamura, Akihiko A; Tatebo, Masaya M; Ogawa, Shin S; Tsunematsu, Noriko N; Chiba, Shirabe S; Mikami, Haruo H; Kono, Suminori S; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Watanabe, Yoshiyuki Y; Ozaki, Etsuko E; Shigeta, Masako M; Kuriyama, Nagato N; Yoshikawa, Aya A; Matsui, Daisuke D; Watanabe, Isao I; Inoue, Kaoru K; Ozasa, Kotaro K; Mitani, Satoko S; Arisawa, Kokichi K; Uemura, Hirokazu H; Hiyoshi, Mineyoshi M; Takami, Hidenobu H; Yamaguchi, Miwa M; Nakamoto, Mariko M; Takeda, Hideo H; Kubo, Michiaki M; Tanaka, Hideo H; ,

Publication Date: 2011

Variant appearance in text: GC: Cys112Arg

PubMed Link: 21467728

Variant Present in the following documents:

• Main text

View BVdb publication page

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Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.

Journal Of Inherited Metabolic Disease

Krijt, Jakub J; Kopecká, Jana J; Hnízda, Aleš A; Moat, Stuart S; Kluijtmans, Leo A J LA; Mayne, Philip P; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: GC: 334T>C; C112R

PubMed Link: 20821054

Variant Present in the following documents:

• 10545_2011_Article_9371.pdf

View BVdb publication page

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APOE, CETP and LPL genes show strong association with lipid levels in Greek children.

Nutrition, Metabolism, And Cardiovascular Diseases : Nmcd

Smart, M C MC; Dedoussis, G G; Louizou, E E; Yannakoulia, M M; Drenos, F F; Papoutsakis, C C; Maniatis, N N; Humphries, S E SE; Talmud, P J PJ

Publication Date: 2010-01

Variant appearance in text: GC: C112R

PubMed Link: 19403283

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mendelian Inheritance in Man and its online version, OMIM.

American Journal Of Human Genetics

McKusick, Victor A VA

Publication Date: 2007-04

Variant appearance in text: GC: Cys112Arg

PubMed Link: 17357067

Variant Present in the following documents:

• AJHGv80p588.pdf

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Subsets of SNPs define rare genotype classes that predict ischemic heart disease.

Human Genetics

Frikke-Schmidt, Ruth R; Sing, Charles F CF; Nordestgaard, Børge G BG; Steffensen, Rolf R; Tybjaerg-Hansen, Anne A

Publication Date: 2007-02

Variant appearance in text: GC: C112R

PubMed Link: 17006673

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene.

Genome Research

Nickerson, D A DA; Taylor, S L SL; Fullerton, S M SM; Weiss, K M KM; Clark, A G AG; Stengård, J H JH; Salomaa, V V; Boerwinkle, E E; Sing, C F CF

Publication Date: 2000-10

Variant appearance in text: GC: Cys112Arg

PubMed Link: 11042151

Variant Present in the following documents:

• Main text

View BVdb publication page

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