1,338,857 results match your criteria: "Genetic Variation"

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Pertuzumab Plus Trastuzumab in Patients With Lung Cancer With Mutation or Amplification: Results From the Targeted Agent and Profiling Utilization Registry Study.
Apar K Ganti, Michael Rothe, Pam K Mangat, Elizabeth Garrett-Mayer, Elie G Dib

JCO Precis Oncol· June 2023

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Evaluating the distinct pleiotropic effects of omega-3 fatty acids on type 2 diabetes mellitus: a mendelian randomization study.
Chunyan Hu, Yulin Zhou, Xueyan Wu, Xiaojing Jia, Yuanyue Zhu

J Transl Med· June 2023

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Targeted mutagenesis with sequence-specific nucleases for accelerated improvement of polyploid crops: Progress, challenges, and prospects.
David May, Katalin Paldi, Fredy Altpeter

Plant Genome· June 2023

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Latozinemab, a novel progranulin-elevating therapy for frontotemporal dementia.
Michael Kurnellas, Ananya Mitra, Tina Schwabe, Robert Paul, Andrew E Arrant

J Transl Med· June 2023

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High frequency of Voltage-gated sodium channel (VGSC) gene mutations in Aedes albopictus (Diptera: Culicidae) suggest rapid insecticide resistance evolution in Shanghai, China.
Hao Yuan, Wenqi Shan, Yuhang Zhang, Hanlu Yan, Yikai Li

PLoS Negl Trop Dis· June 2023

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Variation in mouse chemical signals is genetically controlled and environmentally modulated.
Romana Stopková, Tereza Matějková, Alica Dodoková, Pavel Talacko, Petr Zacek

Sci Rep· May 2023

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Germline modifiers of the tumor immune microenvironment implicate drivers of cancer risk and immunotherapy response.
Meghana Pagadala, Timothy J Sears, Victoria H Wu, Eva Pérez-Guijarro, Hyo Kim

Nat Commun· May 2023

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Detecting recurrent passenger mutations in melanoma by targeted UV damage sequencing.
Kathiresan Selvam, Smitha Sivapragasam, Gregory M K Poon, John J Wyrick

Nat Commun· May 2023

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Genomics of adaptive evolution in the woolly mammoth.
David Díez-Del-Molino, Marianne Dehasque, J Camilo Chacón-Duque, Patrícia Pečnerová, Alexei Tikhonov

Curr Biol· May 2023

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Two single-point mutations in Ankyrin Repeat one drastically change the threshold temperature of TRPV1.
Shogo Hori, Michihiro Tateyama, Tsuyoshi Shirai, Yoshihiro Kubo, Osamu Saitoh

Nat Commun· May 2023

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Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Erdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, Michael Kwint, Ronny Derks

Genome Med· May 2023

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Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, Marie Wong, Chelsea Mayoh

Genome Biol· May 2023

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Investigating the relationship between depression and breast cancer: observational and genetic analyses.
Xueyao Wu, Wenqiang Zhang, Xunying Zhao, Li Zhang, Minghan Xu

BMC Med· May 2023

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Cerebrospinal fluid circulating tumor DNA depicts profiling of brain metastasis in NSCLC.
Jun Wu, Zhiqiang Liu, Tianxiang Huang, Ying Wang, Meng Meng Song

Mol Oncol· May 2023

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Whole exome sequencing analysis of canine urothelial carcinomas without BRAF V595E mutation: Short in-frame deletions in BRAF and MAP2K1 suggest alternative mechanisms for MAPK pathway disruption.
Rachael Thomas, Claire A Wiley, Emma L Droste, James Robertson, Brant A Inman

PLoS Genet· April 2023

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The association between schizophrenia and white blood cells count: a bidirectional two-sample Mendelian randomization study.
Zibo Gao, Biao Li, Xinru Guo, Wei Bai, Changgui Kou

BMC Psychiatry· April 2023

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Histopathology images predict multi-omics aberrations and prognoses in colorectal cancer patients.
Pei-Chen Tsai, Tsung-Hua Lee, Kun-Chi Kuo, Fang-Yi Su, Tsung-Lu Michael Lee

Nat Commun· April 2023

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Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.
Katherine E Hutchinson, Jessica W Chen, Heidi M Savage, Thomas J Stout, Frauke Schimmoller

Genome Med· April 2023

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Cryo-EM structures and binding of mouse and human ACE2 to SARS-CoV-2 variants of concern indicate that mutations enabling immune escape could expand host range.
Dongchun Ni, Priscilla Turelli, Bertrand Beckert, Sergey Nazarov, Emiko Uchikawa

PLoS Pathog· April 2023

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Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity.
Yingkai Sun, Juan Zhang, Jie Hong, Zhongyun Zhang, Peng Lu

Adv Sci (Weinh)· April 2023

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Genetic diversity analysis in wheat cultivars using SCoT and ISSR markers, chloroplast DNA barcoding and grain SEM.
Heba H Abouseada, Al-Safa H Mohamed, Samir S Teleb, Abdelfattah Badr, Mohamed E Tantawy

BMC Plant Biol· April 2023

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A comprehensive map of human glucokinase variant activity.
Sarah Gersing, Matteo Cagiada, Marinella Gebbia, Anette P Gjesing, Atina G Coté

Genome Biol· April 2023

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Causal effects of COVID-19 on cancer risk: A Mendelian randomization study.
Jia Li, Haocheng Bai, Hao Qiao, Chong Du, Peizhuo Yao

J Med Virol· April 2023

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Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology.
Evan S Sinnathamby, Peter P Issa, Logan Roberts, Haley Norwood, Kevin Malone

Adv Ther· March 2023

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CRISPR screens identify gene targets at breast cancer risk loci.
Natasha K Tuano, Jonathan Beesley, Murray Manning, Wei Shi, Laura Perlaza-Jimenez

Genome Biol· March 2023

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An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping.
Zhao Wang, Qian Liang, Xinyi Qian, Bolang Hu, Zhanye Zheng

Nat Commun· March 2023

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Detection of Streptococcus pyogenes M1 in Australia and characterization of the mutation driving enhanced expression of superantigen SpeA.
Mark R Davies, Nadia Keller, Stephan Brouwer, Magnus G Jespersen, Amanda J Cork

Nat Commun· February 2023

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Structure-guided design of antibody CDRs to reduce their reactivity to treatment-emergent anti-drug antibodies.
Maria U Johansson, Anne Kerschenmeyer, Alessandra Carella, Simon Carnal, Yannik Schmidt

MAbs· December 2026

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[Research progress on the correlation between hemoglobin gene polymorphism and high-altitude hypoxia adaptation].
Qian Ji, Yue-Mei Sun, Ying-Fei Zhang, Rong Wang, Wen-Bin Li

Sheng Li Xue Bao· December 2025

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Targeting KRAS G12D: Advances in Inhibitor Design.
Kaiyin Shi, Amin Li

Thorac Cancer· December 2025

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Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense.
Zhihui Wang, Xuna Shen, Chenyang Xu, Rongyue Wang, Chendi Teng

Mol Genet Genomic Med· December 2025

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QTL mapping for hundred-seed weight in soybean using high-density SLAF-seq technology.
Chunlei Zhang, Huilong Hong, Rongqiang Yuan, Kezhen Zhao, Bire Zha

BMC Plant Biol· December 2025

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Significant clinical and radiologic response to targeted therapy in pediatric cervicomedullary low-grade gliomas harboring the BRAFV600E mutation.
G Abebe Campino, S Shrot, S Constantini, J Roth, A Toren

Childs Nerv Syst· December 2025

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A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea.
Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci

Neurol Sci· December 2025

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Identification of TaqW-6AS, a novel gene controlling WE-AX content in wheat grain.
Qiong Li, Zhankui Zeng, Yue Zhao, Junge Bi, Lei Dong

Theor Appl Genet· December 2025

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CSF3R Mutations Imply Adverse Prognostic Impact in Adult Acute Myeloid Leukemia Patients: A Single-Center Retrospective Study.
Jinjun Yang, Lian Wang, Min Zhu, Xinrong Xiang, Yu Wu

Cancer Med· December 2025

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Rare Coexistence of Hemoglobin D-Iran and Hemoglobin S in a Case from Central India.
Priya Rani, Amol Moon, Umesh Dhumne, Naga Muralidhar Merugu, Swapnil Chandekar

Hemoglobin· November 2025

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Nonsense Variant in the β-Spectrin Gene Causing Hereditary Spherocytosis Identified by Whole-Exome Sequencing in a Child.
Ai- Yang, Ti-Long Huang, Chun-Yan Song, Zu-Gang Xiao, Yun-Bi Lin

Hemoglobin· November 2025

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Genetic evaluation and clinical management of subsequent pregnancies based on previous adverse obstetric history.
Jie Liang, Yu Han, Lin Zhang, Yunmeng Qi, Jiebin Wu

J Matern Fetal Neonatal Med· December 2026

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"Fertile" Mutations in SARS-CoV-2 RNA More Frequently Occurred in Hairpin Loops That Determine Virus Evolution.
Philippe Colson, Pierre Pontarotti, Jacques Fantini, Anthony Levasseur, Christian Devaux

APMIS· December 2025

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Neonatal severe hypertriglyceridaemia: A novel lipoprotein lipase gene splicing variant.
P Anil Kumar, Hari Prasath C

BMJ Case Rep· December 2025

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Cell-type-specific genetic architecture of postpartum depression: A single-cell Mendelian randomization framework for causal gene discovery.
Ya-Jing Huang, Qiu-Han Xu, Ke-Wei Chen, Huai-Fang Li, Yang Yang

J Affect Disord· December 2025

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Extracellular vesicle microRNAs as an epigenetic biosignature of arsenic-associated diabetes in the Strong Heart Study.
Christian K Dye, Allison Kupsco, Gabriela L Jackson, Ronald A Glabonjat, Abbas Hakim

Environ Res· December 2025

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Novel FKBP10 Mutation in Iranian Patients with Osteogenesis Imperfecta: Insights from Whole-Exome Sequencing to Molecular Dynamics.
Moslem Hoseinbeyki, Shirin Moradifard, Fatemeh Mirkhani, Fatemeh Sadat Shariati, Parastoo Ehsani

Iran Biomed J· November 2025

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Epigenetics of glaucoma in the trabecular meshwork.
Zhihao Liu, Yajuan Zheng, Jing Zhao

Clin Epigenetics· December 2025

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Chromosomal variations and evolution in Arachis species revealed by single-copy FISH karyotyping.
Guoquan Chen, Qian Wang, Haojie Sun, Liuyang Fu, Xiaobo Wang

Theor Appl Genet· December 2025

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Genome-wide variation reveal that goats were introduced into Asia via multiple migrations.
Takahiro Yonezawa, Jiaqi Wu, Ryo Masuko, Kenta Iso, Yuto Nomura

Sci Rep· December 2025

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Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability.
Ben Lundie, Sze Yee Chai, Alicia B Byrne, Dimitar Azmanov, John Christodoulou

J Mol Diagn· December 2025

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Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China.
Yueyao Luan, Qixuan Sun, Yiyuan Wang, Binliang Tong, Liguang Duan

J Mol Diagn· December 2025

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Integrative multi-omics reveals microbial genomic variants driving altered host-microbe interactions in autism spectrum disorder.
Wanning Chen, Xinjun Wang, Ruixin Zhu, Wenxing Gao, Liwen Tao

Cell Rep Med· December 2025

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miRNA modules for precise, tunable control of gene expression.
Rongrong Du, Michael J Flynn, Karan Mahe, Monique Honsa, Bo Gu

Mol Cell· December 2025

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Detection and mapping of gm13, a QTL governing recessive resistance to rice gall midge.
Fugang Huang, Chunlan Teng, Huayu Huang, Haiyan Cheng, Guihua Zhou

J Plant Physiol· December 2025

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Characterization of gut microbiomes in rural Honduras reveals uncharacterized species and associations with human genetic variation.
Francesco Beghini, Ilana L Brito, Mark Gerstein, Nicholas A Christakis

Cell Rep· December 2025

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Genetic diversity and haplotype distribution of ticks across Europe, including new data from the Baltic States region.
Algimantas Paulauskas, Matas Galdikas, Asta Aleksandravičienė, Loreta Griciuvienė, Dalytė Mardosaitė-Busaitienė

J Vector Ecol· December 2025

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