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A common intronic single nucleotide variant modifies PKD1 expression level
Zhang, Zhengmao, Blumenfeld, Jon, Ramnauth, Andrew, Barash, Irina, Zhou, Pengbo, Levine, Daniel, Parker, Thomas, Rennert, Hanna
Published in Clinical genetics (01.12.2022)
Published in Clinical genetics (01.12.2022)
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Journal Article
Sequencing Analysis of Plasma Epstein-Barr Virus DNA Reveals Nasopharyngeal Carcinoma-Associated Single Nucleotide Variant Profiles
Lam, W K Jacky, Ji, Lu, Tse, O Y Olivia, Cheng, Suk Hang, Jiang, Peiyong, Lee, P H Patrick, Lin, S Vivien, Hui, Edwin P, Ma, Brigette B Y, Chan, Anthony T C, Chan, K C Allen, Chiu, Rossa W K, Lo, Y M Dennis
Published in Clinical chemistry (Baltimore, Md.) (01.04.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2020)
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Journal Article
The Novel Association of a Single Nucleotide Variant in the COL3A1 Gene with Diffuse Coronary Aneurysms
Norgan Radler, Charlene, Ku, Kevin, Hodge, Alison, Wang, Tianci, Moore, Peyton, Sathyamoorthy, Mohanakrishnan
Published in Current Issues in Molecular Biology (27.01.2025)
Published in Current Issues in Molecular Biology (27.01.2025)
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Journal Article
A Retrospective Statistical Validation Approach for Panel of Normal–Based Single-Nucleotide Variant Detection in Tumor Sequencing
Ren, Xing, Wang, Jitao, Liu, Shiyi, Deng, Shuyang, Wang, Dalei, Xie, Zhenghua, Chen, Hongyuan, Ye, Yizhou
Published in The Journal of molecular diagnostics : JMD (01.01.2022)
Published in The Journal of molecular diagnostics : JMD (01.01.2022)
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Journal Article
Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
Bolduc, Véronique, Sizov, Katherine, Brull, Astrid, Esposito, Eric, Chen, Grace S., Uapinyoying, Prech, Sarathy, Apurva, Johnson, Kory R., Bönnemann, Carsten G.
Published in Molecular therapy. Nucleic acids (10.09.2024)
Published in Molecular therapy. Nucleic acids (10.09.2024)
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Journal Article
The Association between Serum Resistin Level, Resistin (−420C/G) Single Nucleotide Variant, and Markers of Endothelial Dysfunction, including Salt Taste Preference in Hypertensive Patients
Musialik, Katarzyna, Miller-Kasprzak, Ewa, Walczak, Marta, Markuszewski, Leszek, Bogdański, Paweł
Published in Nutrients (24.04.2022)
Published in Nutrients (24.04.2022)
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Journal Article
Cross-cohort single-nucleotide-variant profiling of gut microbiota suggests a novel gut-health assessment approach
Ma, Chenchen, Zhang, Yufeng, Jiang, Shuaiming, Teng, Fei, Huang, Shi, Zhang, Jiachao
Published in mSystems (21.12.2023)
Published in mSystems (21.12.2023)
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Journal Article
Association between the rs3812316 Single Nucleotide Variant of the MLXIPL Gene and Alpha-Linolenic Acid Intake with Triglycerides in Mexican Mestizo Women
Maldonado-González, Montserrat, Hernández-Nazara, Zamira H., Torres-Castillo, Nathaly, Martínez-López, Erika, de la Cruz-Color, Lucia, Ruíz-Madrigal, Bertha
Published in Nutrients (09.11.2022)
Published in Nutrients (09.11.2022)
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Journal Article
Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression
Yu, Chenglong, Baune, Bernhard T., Licinio, Julio, Wong, Ma-Li
Published in Psychiatry research (01.06.2017)
Published in Psychiatry research (01.06.2017)
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Journal Article
Association between the rs3812316 Single Nucleotide Variant of the IMLXIPL/I Gene and Alpha-Linolenic Acid Intake with Triglycerides in Mexican Mestizo Women
Maldonado-González, Montserrat, Hernández-Nazara, Zamira H, Torres-Castillo, Nathaly, Martínez-López, Erika, de la Cruz-Color, Lucia, Ruíz-Madrigal, Bertha
Published in Nutrients (01.11.2022)
Published in Nutrients (01.11.2022)
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Journal Article
Corroborating evidence for the correlation between the MTHFR C677T single nucleotide variant and smoking in Croatian subjects independent of ischemic stroke
Martinović, Antonela Bazina, Križ, Tena, Orešković, Ivana, van Wijnen, Andre J., Sertić, Jandranka
Published in Gene reports (01.06.2023)
Published in Gene reports (01.06.2023)
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Journal Article
Increased Enzyme Activity and β-Adrenergic–Mediated Vasodilation in Subjects Expressing a Single-Nucleotide Variant of Human Adenylyl Cyclase 6
Gros, Robert, Van Uum, Stan, Hutchinson-Jaffe, Adam, Ding, Qingming, Pickering, J Geoffrey, Hegele, Robert A., Feldman, Ross D.
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2007)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.12.2007)
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Journal Article
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads
Darby, Charlotte A., Fitch, James R., Brennan, Patrick J., Kelly, Benjamin J., Bir, Natalie, Magrini, Vincent, Leonard, Jeffrey, Cottrell, Catherine E., Gastier-Foster, Julie M., Wilson, Richard K., Mardis, Elaine R., White, Peter, Langmead, Ben, Schatz, Michael C.
Published in iScience (30.08.2019)
Published in iScience (30.08.2019)
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Journal Article
The functional TNFAIP3 rs2230926T/G (Phe127Cys) variant confers risk to systemic lupus erythematosus in a Latin American population
Montúfar-Robles, Isela, Barbosa-Cobos, Rosa Elda, Romero-Díaz, Juanita, Valencia-Pacheco, Guillermo, Cabello-Gutiérrez, Carlos, Ramírez-Bello, Julian
Published in Human immunology (01.01.2024)
Published in Human immunology (01.01.2024)
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Journal Article
Assessment of the Influence of UVR in Cutaneous Melanoma
Walker, Graeme J., Khosrotehrani, Kiarash
Published in Photodermatology, photoimmunology & photomedicine (01.05.2025)
Published in Photodermatology, photoimmunology & photomedicine (01.05.2025)
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Journal Article
Impact of Missense Variants on the Structure and Function of Polycystic Ovary Syndrome-Associated HSD17B1 Gene
Bhandary, Prajna, Ghate, Sudeep D., Patil, Prakash, Shetty, Praveenkumar, Shetty, Prasanna Kumar, Nalilu, Suchetha Kumari
Published in Biochemical genetics (21.04.2025)
Published in Biochemical genetics (21.04.2025)
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Journal Article