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: rs309180

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD.

Gut

Hu, Shixian S; Vich Vila, Arnau A; Gacesa, Ranko R; Collij, Valerie V; Stevens, Christine C; Fu, Jack M JM; Wong, Isaac I; Talkowski, Michael E ME; Rivas, Manuel A MA; Imhann, Floris F; Bolte, Laura L; van Dullemen, Hendrik H; Dijkstra, Gerard G; Visschedijk, Marijn C MC; Festen, Eleonora A EA; Xavier, Ramnik J RJ; Fu, Jingyuan J; Daly, Mark J MJ; Wijmenga, Cisca C; Zhernakova, Alexandra A; Kurilshikov, Alexander A; Weersma, Rinse K RK

Publication Date: 2021-02

Variant appearance in text: rs309180

PubMed Link: 32651235

Variant Present in the following documents:

• gutjnl-2019-319706supp002.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs309180

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: MCM6: 1626+43C>T; rs309180

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.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: rs309180

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Associations of the MCM6-rs3754686 proxy for milk intake in Mediterranean and American populations with cardiovascular biomarkers, disease and mortality: Mendelian randomization.

Scientific Reports

Smith, Caren E CE; Coltell, Oscar O; Sorlí, Jose V JV; Estruch, Ramón R; Martínez-González, Miguel Ángel MÁ; Salas-Salvadó, Jordi J; Fitó, Montserrat M; Arós, Fernando F; Dashti, Hassan S HS; Lai, Chao Q CQ; Miró, Leticia L; Serra-Majem, Lluís L; Gómez-Gracia, Enrique E; Fiol, Miquel M; Ros, Emilio E; Aslibekyan, Stella S; Hidalgo, Bertha B; Neuhouser, Marian L ML; Di, Chongzhi C; Tucker, Katherine L KL; Arnett, Donna K DK; Ordovás, José M JM; Corella, Dolores D

Publication Date: 2016-09-14

Variant appearance in text: rs309180

PubMed Link: 27624874

Variant Present in the following documents:

• Main text
• srep33188.pdf

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: rs309180

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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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: rs309180

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic dissection of the pre-eclampsia susceptibility locus on chromosome 2q22 reveals shared novel risk factors for cardiovascular disease.

Molecular Human Reproduction

Johnson, Matthew P MP; Brennecke, Shaun P SP; East, Christine E CE; Dyer, Thomas D TD; Roten, Linda T LT; Proffitt, J Michael JM; Melton, Phillip E PE; Fenstad, Mona H MH; Aalto-Viljakainen, Tia T; Mäkikallio, Kaarin K; Heinonen, Seppo S; Kajantie, Eero E; Kere, Juha J; Laivuori, Hannele H; , ; Austgulen, Rigmor R; Blangero, John J; Moses, Eric K EK

Publication Date: 2013-07

Variant appearance in text: rs309180

PubMed Link: 23420841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analysis of total cholesterol and high-density lipoprotein cholesterol levels using the Framingham heart study data.

Bmc Medical Genetics

Ma, Li L; Yang, Jing J; Runesha, H Birali HB; Tanaka, Toshiko T; Ferrucci, Luigi L; Bandinelli, Stefania S; Da, Yang Y

Publication Date: 2010-04-06

Variant appearance in text: rs309180

PubMed Link: 20370913

Variant Present in the following documents:

• Main text
• 1471-2350-11-55.pdf

View BVdb publication page

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Genetic signatures of strong recent positive selection at the lactase gene.

American Journal Of Human Genetics

Bersaglieri, Todd T; Sabeti, Pardis C PC; Patterson, Nick N; Vanderploeg, Trisha T; Schaffner, Steve F SF; Drake, Jared A JA; Rhodes, Matthew M; Reich, David E DE; Hirschhorn, Joel N JN

Publication Date: 2004-06

Variant appearance in text: rs309180

PubMed Link: 15114531

Variant Present in the following documents:

• Main text

View BVdb publication page

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