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: rs2070727

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs2070727

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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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: IRF1: 718-86G>T; rs2070727

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.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: rs2070727

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genome-wide interaction studies reveal sex-specific asthma risk alleles.

Human Molecular Genetics

Myers, Rachel A RA; Scott, Nicole M NM; Gauderman, W James WJ; Qiu, Weiliang W; Mathias, Rasika A RA; Romieu, Isabelle I; Levin, Albert M AM; Pino-Yanes, Maria M; Graves, Penelope E PE; Villarreal, Albino Barraza AB; Beaty, Terri H TH; Carey, Vincent J VJ; Croteau-Chonka, Damien C DC; del Rio Navarro, Blanca B; Edlund, Christopher C; Hernandez-Cadena, Leticia L; Navarro-Olivos, Efrain E; Padhukasahasram, Badri B; Salam, Muhammad T MT; Torgerson, Dara G DG; Van den Berg, David J DJ; Vora, Hita H; Bleecker, Eugene R ER; Meyers, Deborah A DA; Williams, L Keoki LK; Martinez, Fernando D FD; Burchard, Esteban G EG; Barnes, Kathleen C KC; Gilliland, Frank D FD; Weiss, Scott T ST; London, Stephanie J SJ; Raby, Benjamin A BA; Ober, Carole C; Nicolae, Dan L DL; ,

Publication Date: 2014-10-01

Variant appearance in text: rs2070727

PubMed Link: 24824216

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.

Malaria Journal

Naka, Izumi I; Nishida, Nao N; Patarapotikul, Jintana J; Nuchnoi, Pornlada P; Tokunaga, Katsushi K; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J

Publication Date: 2009-10-19

Variant appearance in text: rs2070727

PubMed Link: 19840389

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations.

Plos One

Mangano, Valentina D VD; Clark, Taane G TG; Auburn, Sarah S; Campino, Susana S; Diakite, Mahamadou M; Fry, Andrew E AE; Green, Angela A; Richardson, Anna A; Jallow, Muminatou M; Sisay-Joof, Fatou F; Pinder, Margaret M; Griffiths, Michael J MJ; Newton, Charles C; Peshu, Norbert N; Williams, Thomas N TN; Marsh, Kevin K; Molyneux, Malcolm E ME; Taylor, Terrie E TE; Modiano, David D; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA

Publication Date: 2009

Variant appearance in text: rs2070727

PubMed Link: 19145247

Variant Present in the following documents:

• Main text
• pone.0004206.pdf

View BVdb publication page

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Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.

Genes And Immunity

Mangano, V D VD; Luoni, G G; Rockett, K A KA; Sirima, B S BS; Konaté, A A; Forton, J J; Clark, T G TG; Bancone, G G; Sadighi Akha, E E; Akha, E S ES; Kwiatkowski, D P DP; Modiano, D D

Publication Date: 2008-03

Variant appearance in text: rs2070727

PubMed Link: 18200030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genes at human chromosome 5q31.1 regulate delayed-type hypersensitivity responses associated with Leishmania chagasi infection.

Genes And Immunity

Jeronimo, S M B SM; Holst, A K B AK; Jamieson, S E SE; Francis, R R; Martins, D R A DR; Bezerra, F L FL; Ettinger, N A NA; Nascimento, E T ET; Monteiro, G R GR; Lacerda, H G HG; Miller, E N EN; Cordell, H J HJ; Duggal, P P; Beaty, T H TH; Blackwell, J M JM; Wilson, M E ME

Publication Date: 2007-10

Variant appearance in text: rs2070727

PubMed Link: 17713557

Variant Present in the following documents:

• Main text

View BVdb publication page

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