Publications:

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2939

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: rs2939

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Epistatic effect of TLR3 and cGAS-STING-IKKε-TBK1-IFN signaling variants on colorectal cancer risk.

Cancer Medicine

Catalano, Calogerina C; da Silva Filho, Miguel Inacio MI; Frank, Christoph C; Lu, Shun S; Jiraskova, Katerina K; Vymetalkova, Veronika V; Levy, Miroslav M; Liska, Vaclav V; Vycital, Ondrej O; Naccarati, Alessio A; Vodickova, Ludmila L; Hemminki, Kari K; Vodicka, Pavel P; Weber, Alexander N R ANR; Försti, Asta A

Publication Date: 2020-02

Variant appearance in text: rs2939

PubMed Link: 31869529

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2939

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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: rs2939

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival.

Plos One

Lu, Shun S; Pardini, Barbara B; Cheng, Bowang B; Naccarati, Alessio A; Huhn, Stefanie S; Vymetalkova, Veronika V; Vodickova, Ludmila L; Buchler, Thomas T; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A

Publication Date: 2014

Variant appearance in text: rs2939

PubMed Link: 25350395

Variant Present in the following documents:

• Main text
• pone.0111061.pdf

View BVdb publication page

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Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas.

Neuro-Oncology

Qu, Hui-Qi HQ; Jacob, Karine K; Fatet, Sarah S; Ge, Bing B; Barnett, David D; Delattre, Olivier O; Faury, Damien D; Montpetit, Alexandre A; Solomon, Lauren L; Hauser, Peter P; Garami, Miklos M; Bognar, Laszlo L; Hansely, Zoltan Z; Mio, Robert R; Farmer, Jean-Pierre JP; Albrecht, Steffen S; Polychronakos, Constantin C; Hawkins, Cynthia C; Jabado, Nada N

Publication Date: 2010-02

Variant appearance in text: rs2939

PubMed Link: 20150382

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

American Journal Of Human Genetics

Sigurdsson, Snaevar S; Nordmark, Gunnel G; Göring, Harald H H HH; Lindroos, Katarina K; Wiman, Ann-Christin AC; Sturfelt, Gunnar G; Jönsen, Andreas A; Rantapää-Dahlqvist, Solbritt S; Möller, Bozena B; Kere, Juha J; Koskenmies, Sari S; Widén, Elisabeth E; Eloranta, Maija-Leena ML; Julkunen, Heikki H; Kristjansdottir, Helga H; Steinsson, Kristjan K; Alm, Gunnar G; Rönnblom, Lars L; Syvänen, Ann-Christine AC

Publication Date: 2005-03

Variant appearance in text: rs2939

PubMed Link: 15657875

Variant Present in the following documents:

• Main text

View BVdb publication page

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