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: rs3136717

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Genetic susceptibility of bladder cancer in the Lebanese population.

Bmc Medical Genomics

Kourie, Hampig Raphael HR; Succar, Bahaa B; Chouery, Eliane E; Mehawej, Cybel C; Ahmadieh, Nizar N; Zouein, Joseph J; Mardirossian, Avedis A; Jalkh, Nadine N; Sleilaty, Ghassan G; Kattan, Joseph J; Nemr, Elie E

Publication Date: 2022-10-17

Variant appearance in text: POLB: 62-89C>G; rs3136717

PubMed Link: 36253817

Variant Present in the following documents:

• 12920_2022_1372_MOESM2_ESM.xlsx, sheet 1

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs3136717

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic variations in base excision repair pathway genes and risk of hepatoblastoma: a seven-center case-control study.

American Journal Of Cancer Research

Zhuo, Zhenjian Z; Lin, Ao A; Zhang, Jiao J; Chen, Huitong H; Li, Yong Y; Yang, Zhonghua Z; Li, Li L; Li, Suhong S; Cheng, Jiwen J; He, Jing J

Publication Date: 2021

Variant appearance in text: rs3136717

PubMed Link: 33791158

Variant Present in the following documents:

• Main text

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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: rs3136717

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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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: rs3136717

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs3136717

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

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Colonic transcriptional response to 1α,25(OH)2 vitamin D3 in African- and European-Americans.

The Journal Of Steroid Biochemistry And Molecular Biology

Alleyne, Dereck D; Witonsky, David B DB; Mapes, Brandon B; Nakagome, Shigeki S; Sommars, Meredith M; Hong, Ellie E; Muckala, Katy A KA; Di Rienzo, Anna A; Kupfer, Sonia S SS

Publication Date: 2017-04

Variant appearance in text: rs3136717

PubMed Link: 28163244

Variant Present in the following documents:

• Main text

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Integrative genomic analysis identifies ancestry-related expression quantitative trait loci on DNA polymerase β and supports the association of genetic ancestry with survival disparities in head and neck squamous cell carcinoma.

Cancer

Ramakodi, Meganathan P MP; Devarajan, Karthik K; Blackman, Elizabeth E; Gibbs, Denise D; Luce, Danièle D; Deloumeaux, Jacqueline J; Duflo, Suzy S; Liu, Jeffrey C JC; Mehra, Ranee R; Kulathinal, Rob J RJ; Ragin, Camille C CC

Publication Date: 2017-03-01

Variant appearance in text: rs3136717

PubMed Link: 27906459

Variant Present in the following documents:

• Main text

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A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients.

Bmc Cancer

Seibold, Petra P; Schmezer, Peter P; Behrens, Sabine S; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Wang, Qin Q; Flesch-Janys, Dieter D; Nevanlinna, Heli H; Fagerholm, Rainer R; Aittomäki, Kristiina K; Blomqvist, Carl C; Margolin, Sara S; Mannermaa, Arto A; Kataja, Vesa V; Kosma, Veli-Matti VM; Hartikainen, Jaana M JM; Lambrechts, Diether D; Wildiers, Hans H; Kristensen, Vessela V; Alnæs, Grethe Grenaker GG; Nord, Silje S; Borresen-Dale, Anne-Lise AL; Hooning, Maartje J MJ; Hollestelle, Antoinette A; Jager, Agnes A; Seynaeve, Caroline C; Li, Jingmei J; Liu, Jianjun J; Humphreys, Keith K; Dunning, Alison M AM; Rhenius, Valerie V; Shah, Mitul M; Kabisch, Maria M; Torres, Diana D; Ulmer, Hans-Ulrich HU; Hamann, Ute U; Schildkraut, Joellen M JM; Purrington, Kristen S KS; Couch, Fergus J FJ; Hall, Per P; Pharoah, Paul P; Easton, Doug F DF; Schmidt, Marjanka K MK; Chang-Claude, Jenny J; Popanda, Odilia O

Publication Date: 2015-12-16

Variant appearance in text: rs3136717

PubMed Link: 26674097

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1957.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: rs3136717

PubMed Link: 26549847

Variant Present in the following documents:

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

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Genetic Variants of IκB Kinase β (IKBKB) and Polymerase β (POLB) Were Not Associated with Systemic Lupus Erythematosus Risk in a Chinese Han Population.

Plos One

Li, Yuan Y; Wu, Ziyan Z; Zhang, Shulan S; Chen, Si S; Li, Ping P; Li, Jing J; Cao, Chongwei C; Liu, Bin B; Zhang, Fengchun F; Li, Yongzhe Y

Publication Date: 2015

Variant appearance in text: rs3136717

PubMed Link: 26167925

Variant Present in the following documents:

• Main text
• pone.0132556.pdf

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Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin.

Plos One

Wei, Hua H; Kamat, Ashish A; Chen, Meng M; Ke, Hung-Lung HL; Chang, David W DW; Yin, Jikai J; Grossman, H Barton HB; Dinney, Colin P CP; Wu, Xifeng X

Publication Date: 2012

Variant appearance in text: rs3136717

PubMed Link: 22701660

Variant Present in the following documents:

• Main text
• pone.0038533.pdf

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Population-specific variation in haplotype composition and heterozygosity at the POLB locus.

Dna Repair

Yamtich, Jennifer J; Speed, William C WC; Straka, Eva E; Kidd, Judith R JR; Sweasy, Joann B JB; Kidd, Kenneth K KK

Publication Date: 2009-05-01

Variant appearance in text: rs3136717

PubMed Link: 19167932

Variant Present in the following documents:

• Main text

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