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: rs698090

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs698090

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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MASPs at the crossroad between the complement and the coagulation cascades - the case for COVID-19.

Genetics And Molecular Biology

Bumiller-Bini, Valéria V; de Freitas Oliveira-Toré, Camila C; Carvalho, Tamyres Mingorance TM; Kretzschmar, Gabriela Canalli GC; Gonçalves, Letícia Boslooper LB; Alencar, Nina de Moura NM; Gasparetto Filho, Miguel Angelo MA; Beltrame, Marcia Holsbach MH; Winter Boldt, Angelica Beate AB

Publication Date: 2021

Variant appearance in text: rs698090

PubMed Link: 33729332

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-44-1-s1-e20200199.pdf

View BVdb publication page

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Mechanisms of Key Innate Immune Cells in Early- and Late-Onset Preeclampsia.

Frontiers In Immunology

Aneman, Ingrid I; Pienaar, Dillan D; Suvakov, Sonja S; Simic, Tatjana P TP; Garovic, Vesna D VD; McClements, Lana L

Publication Date: 2020

Variant appearance in text: rs698090

PubMed Link: 33013837

Variant Present in the following documents:

• Main text
• fimmu-11-01864.pdf

View BVdb publication page

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Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

International Journal Of Molecular Sciences

Gajek, Gabriela G; Świerzko, Anna S AS; Cedzyński, Maciej M

Publication Date: 2020-07-31

Variant appearance in text: rs698090

PubMed Link: 32751929

Variant Present in the following documents:

• Main text
• ijms-21-05483.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: MASP1: 1091-2891G>A; rs698090

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth

de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,

Publication Date: 2018-12

Variant appearance in text: rs698090

PubMed Link: 30168256

Variant Present in the following documents:

• NIHMS1021906-supplement-1.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: rs698090

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia.

Frontiers In Immunology

Lokki, A Inkeri AI; Kaartokallio, Tea T; Holmberg, Ville V; Onkamo, Päivi P; Koskinen, Lotta L E LLE; Saavalainen, Päivi P; Heinonen, Seppo S; Kajantie, Eero E; Kere, Juha J; Kivinen, Katja K; Pouta, Anneli A; Villa, Pia M PM; Hiltunen, Leena L; Laivuori, Hannele H; Meri, Seppo S

Publication Date: 2017

Variant appearance in text: rs698090

PubMed Link: 28611769

Variant Present in the following documents:

• Main text
• fimmu-08-00589.pdf

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs698090

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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MBL-associated serine proteases (MASPs) and infectious diseases.

Molecular Immunology

Beltrame, Marcia H MH; Boldt, Angelica B W AB; Catarino, Sandra J SJ; Mendes, Hellen C HC; Boschmann, Stefanie E SE; Goeldner, Isabela I; Messias-Reason, Iara I

Publication Date: 2015-09

Variant appearance in text: rs698090

PubMed Link: 25862418

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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A screening-testing approach for detecting gene-environment interactions using sequential penalized and unpenalized multiple logistic regression.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Frost, H Robert HR; Andrew, Angeline S AS; Karagas, Margaret R MR; Moore, Jason H JH

Publication Date: 2015

Variant appearance in text: rs698090

PubMed Link: 25592580

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the MASP1 gene are associated with serum levels of MASP-1, MASP-3, and MAp44.

Plos One

Ammitzbøll, Christian Gytz CG; Steffensen, Rudi R; Jørgen Nielsen, Hans H; Thiel, Steffen S; Stengaard-Pedersen, Kristian K; Bøgsted, Martin M; Jensenius, Jens Christian JC

Publication Date: 2013

Variant appearance in text: rs698090

PubMed Link: 24023860

Variant Present in the following documents:

• Main text
• pone.0073317.pdf

View BVdb publication page

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