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: rs2275033

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Role of Genetic Variation in ABC Transporters in Breast Cancer Prognosis and Therapy Response.

International Journal Of Molecular Sciences

Hlaváč, Viktor V; Václavíková, Radka R; Brynychová, Veronika V; Koževnikovová, Renata R; Kopečková, Katerina K; Vrána, David D; Gatěk, Jiří J; Souček, Pavel P

Publication Date: 2020-12-15

Variant appearance in text: rs2275033

PubMed Link: 33334016

Variant Present in the following documents:

• Main text
• ijms-21-09556.pdf

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs2275033

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2275033

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs2275033

PubMed Link: 28009986

Variant Present in the following documents:

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

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Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

Plos One

Jamieson, Sarra E SE; de Roubaix, Lee-Anne LA; Cortina-Borja, Mario M; Tan, Hooi Kuan HK; Mui, Ernest J EJ; Cordell, Heather J HJ; Kirisits, Michael J MJ; Miller, E Nancy EN; Peacock, Christopher S CS; Hargrave, Aubrey C AC; Coyne, Jessica J JJ; Boyer, Kenneth K; Bessieres, Marie-Hélène MH; Buffolano, Wilma W; Ferret, Nicole N; Franck, Jacqueline J; Kieffer, François F; Meier, Paul P; Nowakowska, Dorota E DE; Paul, Malgorzata M; Peyron, François F; Stray-Pedersen, Babill B; Prusa, Andrea-Romana AR; Thulliez, Philippe P; Wallon, Martine M; Petersen, Eskild E; McLeod, Rima R; Gilbert, Ruth E RE; Blackwell, Jenefer M JM

Publication Date: 2008-06-04

Variant appearance in text: rs2275033

PubMed Link: 18523590

Variant Present in the following documents:

• Main text
• pone.0002285.pdf

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