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: rs2070669

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs2070669

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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Sequence analysis and variant identification at the APOC3 gene locus indicates association of rs5218 with BMI in a sample of Kuwaiti's.

Lipids In Health And Disease

Malalla, Zainab H ZH; Al-Serri, Ahmad E AE; AlAskar, Huda M HM; Al-Kandari, Wafaa Y WY; Al-Bustan, Suzanne A SA

Publication Date: 2019-12-19

Variant appearance in text: rs2070669

PubMed Link: 31856839

Variant Present in the following documents:

• Main text
• 12944_2019_Article_1165.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: rs2070669

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.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: rs2070669

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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An APOC3 3'UTR variant associated with plasma triglycerides levels and coronary heart disease by creating a functional miR-4271 binding site.

Scientific Reports

Hu, Sen-Lin SL; Cui, Guang-Lin GL; Huang, Jin J; Jiang, Jian-Gang JG; Wang, Dao-Wen DW

Publication Date: 2016-09-14

Variant appearance in text: rs2070669

PubMed Link: 27624799

Variant Present in the following documents:

• Main text
• srep32700.pdf

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2070669

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Latent variable modeling paradigms for genotype-trait association studies.

Biometrical Journal. Biometrische Zeitschrift

Liu, Yan Y; Foulkes, Andrea S AS

Publication Date: 2011-09

Variant appearance in text: rs2070669

PubMed Link: 21887796

Variant Present in the following documents:

• Main text
• bimj0053-0838.pdf

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Application of two machine learning algorithms to genetic association studies in the presence of covariates.

Bmc Genetics

Nonyane, Bareng A S BA; Foulkes, Andrea S AS

Publication Date: 2008-11-14

Variant appearance in text: rs2070669

PubMed Link: 19014573

Variant Present in the following documents:

• Main text
• 1471-2156-9-71.pdf

View BVdb publication page

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Mixed modeling and multiple imputation for unobservable genotype clusters.

Statistics In Medicine

Foulkes, A S AS; Yucel, R R; Reilly, M P MP

Publication Date: 2008-07-10

Variant appearance in text: rs2070669

PubMed Link: 17893946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Associations among race/ethnicity, ApoC-III genotypes, and lipids in HIV-1-infected individuals on antiretroviral therapy.

Plos Medicine

Foulkes, Andrea S AS; Wohl, David A DA; Frank, Ian I; Puleo, Elaine E; Restine, Stephanie S; Wolfe, Megan L ML; Dube, Michael P MP; Tebas, Pablo P; Reilly, Muredach P MP

Publication Date: 2006-03

Variant appearance in text: rs2070669

PubMed Link: 16417409

Variant Present in the following documents:

• Main text
• pmed.0030052.pdf

View BVdb publication page

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