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: rs2241193

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology.

Plos One

Alag, Shray S

Publication Date: 2020

Variant appearance in text: rs2241193

PubMed Link: 32459809

Variant Present in the following documents:

• Main text
• pone.0233438.pdf

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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: rs2241193

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Plos Genetics

Demirkan, Ayşe A; Henneman, Peter P; Verhoeven, Aswin A; Dharuri, Harish H; Amin, Najaf N; van Klinken, Jan Bert JB; Karssen, Lennart C LC; de Vries, Boukje B; Meissner, Axel A; Göraler, Sibel S; van den Maagdenberg, Arn M J M AM; Deelder, André M AM; C 't Hoen, Peter A PA; van Duijn, Cornelia M CM; van Dijk, Ko Willems KW

Publication Date: 2015-01

Variant appearance in text: rs2241193

PubMed Link: 25569235

Variant Present in the following documents:

• pgen.1004835.s003.pdf

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Translational research in the Gynecologic Oncology Group: evaluation of ovarian cancer markers, profiles, and novel therapies.

Gynecologic Oncology

Darcy, Kathleen M KM; Birrer, Michael J MJ

Publication Date: 2010-06

Variant appearance in text: rs2241193

PubMed Link: 20233625

Variant Present in the following documents:

• Main text

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Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers.

Breast Cancer Research : Bcr

Neuhausen, Susan L SL; Brummel, Sean S; Ding, Yuan Chun YC; Singer, Christian F CF; Pfeiler, Georg G; Lynch, Henry T HT; Nathanson, Katherine L KL; Rebbeck, Timothy R TR; Garber, Judy E JE; Couch, Fergus F; Weitzel, Jeffrey J; Narod, Steven A SA; Ganz, Patricia A PA; Daly, Mary B MB; Godwin, Andrew K AK; Isaacs, Claudine C; Olopade, Olufunmilayo I OI; Tomlinson, Gail G; Rubinstein, Wendy S WS; Tung, Nadine N; Blum, Joanne L JL; Gillen, Daniel L DL

Publication Date: 2009

Variant appearance in text: rs2241193

PubMed Link: 19843326

Variant Present in the following documents:

• Main text
• bcr2414.pdf

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Genetic variation in IGFBP2 and IGFBP5 is associated with breast cancer in populations of African descent.

Human Genetics

Garner, Chad P CP; Ding, Yuan C YC; John, Esther M EM; Ingles, Sue A SA; Olopade, Olufunmilayo I OI; Huo, Dezheng D; Adebamowo, Clement C; Ogundiran, Temidayo T; Neuhausen, Susan L SL

Publication Date: 2008-04

Variant appearance in text: rs2241193

PubMed Link: 18210156

Variant Present in the following documents:

• Main text

View BVdb publication page

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