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: rs28592748

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Weak Association Between Genetic Markers of Hyperuricemia and Cardiorenal Outcomes: Insights From the STANISLAS Study Cohort With a 20-Year Follow-Up.

Journal Of The American Heart Association

Kanbay, Mehmet M; Xhaard, Constance C; Le Floch, Edith E; Dandine-Roulland, Claire C; Girerd, Nicolas N; Ferreira, João Pedro JP; Boivin, Jean-Marc JM; Wagner, Sandra S; Bacq-Daian, Delphine D; Deleuze, Jean-François JF; Zannad, Faiez F; Rossignol, Patrick P

Publication Date: 2022-05-03

Variant appearance in text: rs28592748

PubMed Link: 35470676

Variant Present in the following documents:

• Main text
• JAH3-11-e023301.pdf

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines

Stiburkova, Blanka B; Bohatá, Jana J; Pavelcová, Kateřina K; Tasic, Velibor V; Plaseska-Karanfilska, Dijana D; Cho, Sung-Kweon SK; Potočnaková, Ludmila L; Šaligová, Jana J

Publication Date: 2021-11-03

Variant appearance in text: rs28592748

PubMed Link: 34829836

Variant Present in the following documents:

• Main text
• biomedicines-09-01607.pdf

View BVdb publication page

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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: rs28592748

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs28592748

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Journal Of Clinical Medicine

Pavelcova, Katerina K; Bohata, Jana J; Pavlikova, Marketa M; Bubenikova, Eliska E; Pavelka, Karel K; Stiburkova, Blanka B

Publication Date: 2020-08-04

Variant appearance in text: rs28592748

PubMed Link: 32759716

Variant Present in the following documents:

• Main text
• jcm-09-02510.pdf

View BVdb publication page

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Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study.

Scientific Reports

Chittoor, Geetha G; Haack, Karin K; Balakrishnan, Poojitha P; Bizon, Christopher C; Laston, Sandra S; Best, Lyle G LG; MacCluer, Jean W JW; North, Kari E KE; Umans, Jason G JG; Franceschini, Nora N; Prasad, Gauri G; Macias-Kauffer, Luis L; Villarreal-Molina, Teresa T; Bharadwaj, Dwaipayan D; Canizales-Quinteros, Samuel S; Navas-Acien, Ana A; Cole, Shelley A SA; Voruganti, V S VS

Publication Date: 2019-11-29

Variant appearance in text: rs28592748

PubMed Link: 31784582

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52924.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: rs28592748

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_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: rs28592748

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_7.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: rs28592748

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, 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: rs28592748

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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