Publications:

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs3219466

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 20
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs3219466

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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MUTYH gene variants and breast cancer in a Dutch case–control study.

Breast Cancer Research And Treatment

Out, Astrid A AA; Wasielewski, Marijke M; Huijts, Petra E A PE; van Minderhout, Ivonne J H M IJ; Houwing-Duistermaat, Jeanine J JJ; Tops, Carli M J CM; Nielsen, Maartje M; Seynaeve, Caroline C; Wijnen, Juul T JT; Breuning, Martijn H MH; van Asperen, Christi J CJ; Schutte, Mieke M; Hes, Frederik J FJ; Devilee, Peter P

Publication Date: 2012-07

Variant appearance in text: rs3219466

PubMed Link: 22297469

Variant Present in the following documents:

• Main text
• 10549_2012_Article_1965.pdf

View BVdb publication page

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: rs3219466

PubMed Link: 20843780

Variant Present in the following documents:

• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1

View BVdb publication page

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DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma.

Neuro-Oncology

Rajaraman, Preetha P; Hutchinson, Amy A; Wichner, Sara S; Black, Peter M PM; Fine, Howard A HA; Loeffler, Jay S JS; Selker, Robert G RG; Shapiro, William R WR; Rothman, Nathaniel N; Linet, Martha S MS; Inskip, Peter D PD

Publication Date: 2010-01

Variant appearance in text: rs3219466

PubMed Link: 20150366

Variant Present in the following documents:

• Main text

View BVdb publication page

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Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.

Carcinogenesis

Chang, Jeffrey S JS; Wrensch, Margaret R MR; Hansen, Helen M HM; Sison, Jennette D JD; Aldrich, Melinda C MC; Quesenberry, Charles P CP; Seldin, Michael F MF; Kelsey, Karl T KT; Wiencke, John K JK

Publication Date: 2009-01

Variant appearance in text: rs3219466

PubMed Link: 19029194

Variant Present in the following documents:

• Main text

View BVdb publication page

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