1,338,786 results match your criteria: "Genetic Variation"

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Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.
Pavlos Ioannou, Christoforos Odiatis, Rania Hadjisavva, Kyriaki Antoniadou, Myrtani Pieri

Kidney Int· October 2025

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Detection of Cancers Three Years prior to Diagnosis Using Plasma Cell-Free DNA.
Yuxuan Wang, Corinne E Joshu, Samuel D Curtis, Christopher Douville, Vernon A Burk

Cancer Discov· September 2025

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Low-Dose Aspirin for PI3K-Altered Localized Colorectal Cancer.
Anna Martling, Ida Hed Myrberg, Mef Nilbert, Henrik Grönberg, Fredrik Granath

September 2025

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Neoadjuvant Osimertinib for Resectable -Mutated Non-Small Cell Lung Cancer.
Jianxing He, Masahiro Tsuboi, Walter Weder, Ke-Neng Chen, Maximilian J Hochmair

J Clin Oncol· September 2025

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Geographic and age variations in mutational processes in colorectal cancer.
Marcos Díaz-Gay, Wellington Dos Santos, Sarah Moody, Mariya Kazachkova, Ammal Abbasi

Nature· July 2025

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Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.
Louise A Hyslop, Emma L Blakely, Magomet Aushev, Jordan Marley, Yuko Takeda

N Engl J Med· July 2025

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Genetic history of Scythia.
Tatiana V Andreeva, Anna D Soshkina, Fedor E Gusev, Alexandra B Malyarchuk, Gleb S Dotsenko

Sci Adv· July 2025

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Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs.
Aviya Litman, Natalie Sauerwald, LeeAnne Green Snyder, Jennifer Foss-Feig, Christopher Y Park

Nat Genet· July 2025

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Is sex at birth a biological coin toss? Insights from a longitudinal and GWAS analysis.
Siwen Wang, Bernard A Rosner, Hongyan Huang, Janet W Rich-Edwards, Francine Laden

Sci Adv· July 2025

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An ancient regulatory variant of ACSF3 influences the coevolution of increased human height and basal metabolic rate via metabolic homeostasis.
Yufeng Zhang, Jie Wang, Chuanyou Yi, Yue Su, Zi Yin

Cell Genom· June 2025

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Novel island species elucidate a species complex of Neotropical crocodiles.
Jose Avila-Cervantes, Pierre Charruau, J Rogelio Cedeño-Vázquez, Hoai-Nam Bui, Miryam Venegas-Anaya

Mol Phylogenet Evol· June 2025

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Double Digest Restriction-Site Associated DNA Sequencing (ddRAD-Seq).
Zenaida V Magbanua, Chuan-Yu Hsu, Olga Pechanova, Mark Arick, Daniel G Peterson

Methods Mol Biol· June 2025

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Clonal hematopoiesis landscape in frequent blood donors.
Darja Karpova, Hector Huerga Encabo, Elisa Donato, Silvia Calderazzo, Michael Scherer

Blood· May 2025

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PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects.
Mustafa Tekpinar, Laurent David, Thomas Henry, Alessandra Carbone

Genome Biol· May 2025

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Association between androgen receptor gene and behavioral traits in cats (Felis catus).
Yume Okamoto, Madoka Hattori, Miho Inoue-Murayama

May 2025

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A palette of bright and photostable monomeric fluorescent proteins for bacterial time-lapse imaging.
Nathan Fraikin, Agathe Couturier, Romain Mercier, Christian Lesterlin

Sci Adv· April 2025

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Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean.
Talia Wegman-Ostrosky, Lucia Taja-Chayeb, Zyanya Lucia Zatarain-Barrón, Catalina Trejo-Becerril, Alfredo Ramirez-Gonzalez

JCO Glob Oncol· April 2025

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Pre-existing stem cell heterogeneity dictates clonal responses to the acquisition of leukemic driver mutations.
Indranil Singh, Daniel Fernandez-Perez, Pedro Sanchez Sanchez, Alejo E Rodriguez-Fraticelli

Cell Stem Cell· April 2025

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Functional dissection of the C-terminal domain of rabies virus RNA polymerase L protein.
Fumiki Izumi, Machiko Makino, Michihito Sasaki, Kento Nakagawa, Tatsuki Takahashi

J Virol· April 2025

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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines.
Kourtney Santucci, Kristina E Malik, Katie Angione, Dana Bennink, Andrea Gerk

Clin Genet· February 2025

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Prospective associations between muscle strength and genetic susceptibility to type 2 diabetes with incident type 2 diabetes: a UK Biobank study.
Mengyao Wang, Paul James Collings, Haeyoon Jang, Ziyuan Chen, Qiaoxin Shi

BMC Med· February 2025

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Demographic history and genetic variation of the Armenian population.
Anahit Hovhannisyan, Pierpaolo Maisano Delser, Anna Hakobyan, Eppie R Jones, Joshua G Schraiber

Am J Hum Genet· January 2025

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Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar

Am J Hum Genet· January 2025

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Updates to Male Infertility: AUA/ASRM Guideline (2024).
Robert E Brannigan, Linnea Hermanson, Janice Kaczmarek, Sennett K Kim, Erin Kirkby

J Urol· December 2024

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Deletions in the MAL gene result in loss of Mal protein, defining the rare inherited AnWj-negative blood group phenotype.
Louise A Tilley, Vanja Karamatic Crew, Tosti J Mankelow, Samah A AlSubhi, Benjamin Jones

Blood· December 2024

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4 5 2 136 8 136

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Disrupted Human-Dog Interbrain Neural Coupling in Autism-Associated Shank3 Mutant Dogs.
Wei Ren, Shan Yu, Kun Guo, Chunming Lu, Yong Q Zhang

November 2024

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Sustained human outbreak of a new MPXV clade I lineage in eastern Democratic Republic of the Congo.
Emmanuel Hasivirwe Vakaniaki, Cris Kacita, Eddy Kinganda-Lusamaki, Áine O'Toole, Tony Wawina-Bokalanga

Nat Med· October 2024

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Pigments, Chromatophore Structure, and Gene Expression Underlying Colour Polytypy of a Panamanian Poison Frog.
Vasiliki Mantzana-Oikonomaki, Giselle Tamayo-Castillo, Víctor Vásquez-Cháves, Abel Mora-Machado, William J Zamora Ramirez

Mol Ecol· December 2025

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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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